Telepsychiatry Current Practice and Implications for Future Trends: A 2023 American Psychiatric Association Member Survey.

Although telehealth was a viable means of delivering psychiatric care even before the COVID-19 public health emergency, flexibilities at the federal and state levels during the pandemic prompted mass adoption in a short timeframe. Little is known about how psychiatrists plan to offer care going forward and to what degree services will be offered virtually, in-person, or in a hybrid format. We conducted a survey of American Psychiatric Association (APA) members regarding telepsychiatry practice and potential barriers.

Machine learning-enhanced noninvasive prenatal testing of monogenic disorders.

Objective: Single-nucleotide variants (SNVs) are of great significance in prenatal diagnosis as they are the leading cause of inherited single-gene disorders (SGDs). Identifying SNVs in a non-invasive prenatal screening (NIPS) scenario is particularly challenging for maternally inherited SNVs. We present an improved method to predict inherited SNVs from maternal or paternal origin in a genome-wide manner.

Content of Tele-Palliative Care Consultations with Patients Receiving Dialysis.

Little is known about the content of communication in palliative care telehealth conversations in the dialysis population. Understanding the content and process of these conversations may lead to insights about how palliative care improves quality of life. We conducted a qualitative analysis of video recordings obtained during a pilot palliative teleconsultation program.

PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India.

The study was conducted between 2018 and 2020. From a cohort of 113 hearing impaired (HI), five non-DFNB12 probands identified with heterozygous CDH23 variants were subjected to exome analysis. This resolved the etiology of hearing loss (HL) in four South Indian assortative mating families.

Telemedicine in Neurology: A Scoping Review of Key Outcomes in Movement Disorders.

Telemedicine for neurological care has been researched and practiced in various ways over the past three decades, but the recent COVID-19 pandemic has rapidly expanded its use and highlighted the need for a synthesis of the existing literature. We aimed to review the methodology and outcomes of previous studies that have evaluated the use of telemedicine in movement disorders. This scoping review was performed by searching PubMed, Ovid MEDLINE, and CINAHL databases from 1946 to November 2020.

Report of the Academy of Consultation-Liaison Psychiatry Task Force on Lessons Learned From the COVID-19 Pandemic: Executive Summary.

Background: The COVID-19 pandemic forced consultation-liaison psychiatrists to adapt to unprecedented circumstances. The Academy of Consultation-Liaison Psychiatry (ACLP) recognized the need and opportunity to assess its response and convened a task force in mid-2020 to review the lessons learned from the initial experience of the COVID-19 pandemic.

Objective: The aim of the study was to summarize experience and make recommendations to the ACLP Board of Directors about potential ACLP directions related to current and future pandemic response.

Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.

Autosomal recessive congenital ichthyosis (ARCI) is a rare and heterogeneous skin cornification disorder presenting with generalized scaling and varying degrees of erythema. Clinical manifestations range from lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE) through the most severe form of ARCI, Harlequin ichthyosis (HI). We used homozygosity mapping, whole-exome and direct sequencing to delineate the relative distribution of pathogenic variants as well as identify genotype-phenotype correlations in a cohort of 62 Middle Eastern families with ARCI of various ethnic backgrounds.

Genome-Wide Noninvasive Prenatal Diagnosis of De Novo Mutations.

Noninvasive prenatal diagnosis (NIPD) has become a common, safe, and effective procedure for detection of inherited diseases early in pregnancy. It is based on the analysis of fetal cell-free DNA (cffDNA) derived from the placenta, circulating in the maternal plasma. De novo mutations, although rare, cause a considerable number of dominant genetic disorders.

Genome-Wide Noninvasive Prenatal Diagnosis of SNPs and Indels.

Noninvasive prenatal diagnosis (NIPD) is an emerging field, that enables testing for diseases in the fetus with no risk to the pregnancy, compared to invasive methods (e.g., amniocentesis).

Improved noninvasive fetal variant calling using standardized benchmarking approaches.

The technology of noninvasive prenatal testing (NIPT) enables risk-free detection of genetic conditions in the fetus, by analysis of cell-free DNA (cfDNA) in maternal blood. For chromosomal abnormalities, NIPT often effectively replaces invasive tests (e.g.

Feasibility and Acceptability of Telemedicine-Facilitated Palliative Care Consultations in Rural Dialysis Units.

Patients receiving dialysis have unmet palliative care needs. Limited access to palliative care is a key barrier to its integration into routine dialysis care. To determine the feasibility and acceptability of telepalliative care in rural dialysis units.

Genome-wide noninvasive prenatal diagnosis of monogenic disorders: Current and future trends.

Noninvasive prenatal diagnosis (NIPD) is a risk-free alternative to invasive methods for prenatal diagnosis, e.g. amniocentesis.

Palmoplantar keratoderma caused by a missense variant in CTSB encoding cathepsin B.

Background: Palmoplantar keratoderma (PPK) refers to a large group of disorders characterized by extensive genetic and phenotypic heterogeneity. PPK diagnosis therefore increasingly relies upon genetic analysis.

Aim: To delineate the genetic defect underlying a case of diffuse erythematous PPK associated with peeling of the skin.

Loss-of-Function Variants in SERPINA12 Underlie Autosomal Recessive Palmoplantar Keratoderma.

Inherited palmoplantar keratodermas refer to a large and heterogeneous group of conditions resulting from abnormal epidermal differentiation and featuring thickening of the skin of the palms and soles. Here, we aimed at delineating the genetic basis of an autosomal recessive form of palmoplantar keratodermas manifesting with erythematous hyperkeratotic plaques over the palms and soles, extending to non-palmoplantar areas. Whole-exome sequencing in affected individuals revealed homozygous nonsense variants in the SERPINA12 gene.

The interRAI Suite of Mental Health Assessment Instruments: An Integrated System for the Continuum of Care.

The lives of persons living with mental illness are affected by psychological, biological, social, economic, and environmental factors over the life course. It is therefore unlikely that simple preventive strategies, clinical treatments, therapeutic interventions, or policy options will succeed as singular solutions for the challenges of mental illness. Persons living with mental illness receive services and supports in multiple settings across the health care continuum that are often fragmented, uncoordinated, and inadequately responsive.

[LINEAR MYCOSIS FUNGOIDES IN A BLASCHKOID DISTRIBUTION].

Mycosis fungoides (MF) is the most common type of primary cutaneous T cell lymphoma. Many clinicopathological variants of MF have been described in the literature, though only a few presented in a segmental pattern. There are several unique patterns of distribution of skin diseases, one of which is the Blaschko Lines.

A novel intronic mutation of is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews.

Purpose: To identify the genetic basis for retinitis pigmentosa (RP) in a cohort of Jewish patients from Caucasia.

Methods: Patients underwent a detailed ophthalmic evaluation, including funduscopic examination, visual field testing, optical coherence tomography (OCT), and electrophysiological tests, electroretinography (ERG) and visual evoked potentials (VEP). Genetic analysis was performed with a combination of whole exome sequencing (WES) and Sanger sequencing.

Bayesian-based noninvasive prenatal diagnosis of single-gene disorders.

In the last decade, noninvasive prenatal diagnosis (NIPD) has emerged as an effective procedure for early detection of inherited diseases during pregnancy. This technique is based on using cell-free DNA (cfDNA) and fetal cfDNA (cffDNA) in maternal blood, and hence, has minimal risk for the mother and fetus compared with invasive techniques. NIPD is currently used for identifying chromosomal abnormalities (in some instances) and for single-gene disorders (SGDs) of paternal origin.

Variant in Central Centrifugal Cicatricial Alopecia.

Background: Central centrifugal cicatricial alopecia (CCCA) is the most common form of scarring alopecia among women of African ancestry. The disease is occasionally observed to affect women in families in a manner that suggests an autosomal dominant trait and usually manifests clinically after intense hair grooming. We sought to determine whether there exists a genetic basis of CCCA and, if so, what it is.

Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A.

Peeling skin syndromes form a large and heterogeneous group of inherited disorders characterized by superficial detachment of the epidermal cornified cell layers, often associated with inflammatory features. Here we report on a consanguineous family featuring noninflammatory peeling of the skin exacerbated by exposure to heat and mechanical stress. Whole exome sequencing revealed a homozygous nonsense mutation in FLG2, encoding filaggrin 2, which cosegregated with the disease phenotype in the family.

Approved and Off-Label Use of Prescribed Psychotropic Medications among Federal Canadian Inmates.

Objective: To examine psychotropic medication prescription practices in federal Canadian penitentiaries.

Method: 468 files were drawn from a purposive sample of thirteen Canadian federal institutions representing the five regions, different security levels, and male and female designated facilities. Information on the names of all psychotropic medications prescribed, indications for use, dosage, frequency, and route of administration was retrieved.

An Update on Telepsychiatry and How It Can Leverage Collaborative, Stepped, and Integrated Services to Primary Care.

Introduction: In this era of patient-centered care, telepsychiatry (TP; video or synchronous) provides quality care with outcomes as good as in-person care, facilitates access to care, and leverages a wide range of treatments at a distance.

Method: This conceptual review article explores TP as applied to newer models of care (e.g.

Predictors of Electroconvulsive Therapy Use in a Large Inpatient Psychiatry Population.

Objective: There is limited research on reliable and clinically useful predictors of electroconvulsive therapy (ECT) use. We aimed to examine factors that predict ECT use in an inpatient psychiatric population.

Design: Retrospective analysis of provincial database for inpatient psychiatry.