The Association of Speech/Language Risk With Phonological Awareness, Rapid Naming, and Reading Ability in Children With Cleft Lip and/or Palate.

Children with cleft lip and/or palate were assessed for speech, language, phonological awareness (PA), rapid naming (RN) and reading ability using standardized instruments at baseline (T1; = 142, M = 6.14 years, 51% males) and 2-year follow-up (T2; 89% retention, M = 8.38).

Interdisciplinary Team Care for Children with Facial Differences.

Children who have cleft and craniofacial diagnoses require coordinated, interdisciplinary treatment planning from birth to young adulthood. Teams that adhere to the Parameters of Care and maintain annual review by the American Cleft Palate Craniofacial Association Commission on Approval of Teams are published at www.acpa-cpf.

Choosing the right partner in hormone-dependent gene regulation: Glucocorticoid and progesterone receptors crosstalk in breast cancer cells.

Steroid hormone receptors (SHRs) belong to a large family of ligand-activated nuclear receptors that share certain characteristics and possess others that make them unique. It was thought for many years that the specificity of hormone response lay in the ligand. Although this may be true for pure agonists, the natural ligands as progesterone, corticosterone and cortisol present a broader effect by simultaneous activation of several SHRs.

Uterine fibroids increase the risk of hypertensive disorders of pregnancy: a prospective cohort study.

Objective: It is unclear whether uterine fibroids are associated with the occurrence of hypertensive disorders of pregnancy (HDP). Thus, this study aimed to evaluate the association between uterine fibroids and HDP in a prospective cohort.

Methods: Overall, 2404 pregnant women who received antenatal care were enrolled in a prospective cohort in China between 2014 and 2016; 2277 women met the inclusion criteria of this study.

Velopharyngeal Muscle Morphology in Children With Unrepaired Submucous Cleft Palate: An Imaging Study.

Objective: To identify quantitative and qualitative differences in the velopharyngeal musculature and surrounding structures between children with submucous cleft palate (SMCP) and velopharyngeal insufficiency (VPI) and noncleft controls with normal anatomy and normal speech.

Methods: Magnetic resonance imaging was used to evaluate the velopharyngeal mechanism in 20 children between 4 and 9 years of age; 5 with unrepaired SMCP and VPI. Quantitative and qualitative measures of the velum and levator veli palatini in participants with symptomatic SMCP were compared to noncleft controls with normal velopharyngeal anatomy and normal speech.

Cholestenoic acid analogues as inverse agonists of the liver X receptors.

Liver X Receptors (LXRs) are ligand dependent transcription factors activated by oxidized cholesterol metabolites (oxysterols) that play fundamental roles in the transcriptional control of lipid metabolism, cholesterol transport and modulation of inflammatory responses. In the last decade, LXRs have become attractive pharmacological targets for intervention in human metabolic diseases and thus, several efforts have concentrated on the development of synthetic analogues able to modulate LXR transcriptional response. In this sense, we have previously found that cholestenoic acid analogues with a modified side chain behave as LXR inverse agonists.

Glucocorticoids uncover a critical role for ASH2L on BCL-X expression regulation in leukemia cells.

Targeting the apoptosis machinery is a promising therapeutic approach in myeloid malignancies. BCL2L1 is a well-known glucocorticoid-responsive gene and a key apoptosis regulator that, when over-expressed, can contribute to tumor development, progression and therapeutic resistance. Moreover, synthetic glucocorticoids, like dexamethasone, are frequently used in the treatment of hematopoietic diseases due to its pro-apoptotic properties.

The glucocorticoid receptor interferes with progesterone receptor-dependent genomic regulation in breast cancer cells.

The glucocorticoid and progesterone receptors (GR and PR) are closely related members of the steroid receptor family. Despite sharing similar structural and functional characteristics; the cognate hormones display very distinct physiological responses. In mammary epithelial cells, PR activation is associated with the incidence and progression of breast cancer, whereas the GR is related to growth suppression and differentiation.

The application of meteorological data and search index data in improving the prediction of HFMD: A study of two cities in Guangdong Province, China.

Hand, foot and mouth disease (HFMD) is a public health issue in China, and its incidence in Guangdong Province is higher than the national average. Previous studies have found climatic factors have an influential role in the transmission of HFMD. Internet search technology has been shown to predict some infectious disease epidemics and is a potential resource in tracking epidemics in countries where the use of Internet search index data is prevalent.

SOX-11 regulates LINE-1 retrotransposon activity during neuronal differentiation.

Activity of the human long interspersed nuclear elements-1 (LINE-1) retrotransposon occurs mainly in early embryonic development and during hippocampal neurogenesis. SOX-11, a transcription factor relevant to neuronal development, has unknown functions in the control of LINE-1 retrotransposon activity during neuronal differentiation. To study the dependence of LINE-1 activity on SOX-11 during neuronal differentiation, we induced differentiation of human SH-SY5Y neuroblastoma cells and adult adipose mesenchymal stem cells (hASCs) to a neuronal fate and found increased LINE-1 activity.

Speech Production Skills in Children With Cleft Palate Who Were Internationally Adopted.

Objective: The objective of this study was to investigate the impact of international adoption (IA), age at palatoplasty (PR age), and velopharyngeal sufficiency (VPS) on articulation outcomes.

Design: This was a cross-sectional, prospective, observational study.

Setting: Outpatient hospital clinic.

An electrocardiographic diagnostic model for differentiating left from right ventricular outflow tract tachycardia origin.

Introduction: Although several electrocardiographic (ECG) algorithms have been proposed for differentiating the origins of outflow tract ventricular arrhythmias, the most optimal one has not been agreed on. The purpose of this study was to establish an ECG diagnostic model based on the previous ECG algorithms.

Methods And Results: The following ECG diagnostic model, Y=-1.

Multifocal necrotising leucoencephalopathy following infection in an immunocompetent patient.

Multifocal necrotising leucoencephalopathy is a rare disorder affecting the central nervous system. It is characterised pathologically by microscopic areas of necrosis with pontine predilection but also involvement of extrapontine regions, including the cerebellum, medulla and cerebral hemispheres. It usually occurs on the background of immunosuppression.

Community Practice Implementation of a Self-administered Version of PREMM to Assess Risk for Lynch Syndrome.

Background & Aims: Lynch syndrome is a genetic disorder that greatly increases risk for colorectal and other cancers, although it is underdiagnosed. Prediction of MLH1, MSH2, and MSH6 (PREMM) is a web-based tool that analyzes individuals' personal/family histories of cancer to quantify their likelihood of carrying a germline mutation associated with Lynch syndrome. We investigated the feasibility of systematic risk assessment for Lynch syndrome in a community gastroenterology practice using a patient-completed version of PREMM.

Language Development in Children With Cleft Palate With or Without Cleft Lip Adopted From Non-English-Speaking Countries.

Purpose: The purpose of this study was to determine whether language skills differed between children with cleft palate or cleft lip and palate (CP±CL) who were adopted into an English-speaking home from a non-English-speaking country (late English exposure [LE]) and children with CP±CL raised from birth in an English-speaking home (early English exposure [EE]).

Method: Children (51 LE, 67 EE), ages 3;0 (years;months) to 9;0, completed the Clinical Evaluation of Language Fundamentals (CELF), Preschool Second Edition or Fourth Edition. Linear regression analysis was used to assess the impact of age of adoption and time in an English-speaking home on language skills, as measured by the CELF-P2 and CELF-4.

Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder.

Introduction: Clinical genomics promise to be especially suitable for the study of etiologically heterogeneous conditions such as Autism Spectrum Disorder (ASD). Here we present three siblings with ASD where we evaluated the usefulness of Whole Genome Sequencing (WGS) for the diagnostic approach to ASD.

Methods: We identified a family segregating ASD in three siblings with an unidentified cause.

Nuclear translocation of p19INK4d in response to oxidative DNA damage promotes chromatin relaxation.

DNA is continuously exposed to damaging agents that can lead to changes in the genetic information with adverse consequences. Nonetheless, eukaryotic cells have mechanisms such as the DNA damage response (DDR) to prevent genomic instability. The DNA of eukaryotic cells is packaged into nucleosomes, which fold the genome into highly condensed chromatin, but relatively little is known about the role of chromatin accessibility in DNA repair.

CDK5-mediated phosphorylation of p19INK4d avoids DNA damage-induced neurodegeneration in mouse hippocampus and prevents loss of cognitive functions.

DNA damage, which perturbs genomic stability, has been linked to cognitive decline in the aging human brain, and mutations in DNA repair genes have neurological implications. Several studies have suggested that DNA damage is also increased in brain disorders such as Alzheimer's disease, Parkinson's disease and amyotrophic lateral sclerosis. However, the precise mechanisms connecting DNA damage with neurodegeneration remain poorly understood.

p19INK4d is involved in the cellular senescence mechanism contributing to heterochromatin formation.

Background: During evolution, organisms with renewable tissues have developed mechanisms to prevent tumorigenesis, including cellular senescence and apoptosis. Cellular senescence is characterized by a permanent cell cycle arrest triggered by both endogenous stress and exogenous stress. The p19INK4d, a member of the family of cyclin-dependent kinase inhibitors (INK4), plays an important role on cell cycle regulation and in the cellular DNA damage response.

Live cell imaging unveils multiple domain requirements for in vivo dimerization of the glucocorticoid receptor.

Glucocorticoids are essential for life, but are also implicated in disease pathogenesis and may produce unwanted effects when given in high doses. Glucocorticoid receptor (GR) transcriptional activity and clinical outcome have been linked to its oligomerization state. Although a point mutation within the GR DNA-binding domain (GRdim mutant) has been reported as crucial for receptor dimerization and DNA binding, this assumption has recently been challenged.

Chromatin relaxation-mediated induction of p19INK4d increases the ability of cells to repair damaged DNA.

The maintenance of genomic integrity is of main importance to the survival and health of organisms which are continuously exposed to genotoxic stress. Cells respond to DNA damage by activating survival pathways consisting of cell cycle checkpoints and repair mechanisms. However, the signal that triggers the DNA damage response is not necessarily a direct detection of the primary DNA lesion.