Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child.

Consanguinity, commonplace in many regions around the globe, is associated with an increased risk of autosomal recessive (AR) genetic disorders. Consequently, consanguineous couples undergoing preimplantation genetic diagnosis (PGD) for one Mendelian disorder may be at increased risk for a child with a second, unrelated AR genetic disorder. We examined the yield of exome analysis for carrier screening of additional AR disorders, beyond the primary diagnosis, amongst consanguineous vs.

Diversity and Composition of the Skin, Blood and Gut Microbiome in Rosacea-A Systematic Review of the Literature.

Rosacea is a chronic inflammatory skin disorder of a not fully understood pathophysiology. Microbial factors, although not precisely characterized, are speculated to contribute to the development of the condition. The aim of the current review was to summarize the rosacea-associated alterations in the skin, blood, and gut microbiome, investigated using culture-independent, metagenomic techniques.

Clinical and epidemiological analysis of basosquamous carcinoma: results of the multicenter study.

Basosquamous carcinoma (BSC) is a rare non-melanoma skin cancer that shares the characteristic features of both basal and squamous cell carcinomas (BCC, SCC). Our research enables better characterization of BSC in comparison to high-risk subtypes of BCC and SCC. Paper includes a retrospective analysis of BSC cases regarding sex, age, number of tumors and anatomical distribution in comparison to BCC and SCC evaluating the differences and defining the implications.

What Does "Successful Aging" Mean to you? - Systematic Review and Cross-Cultural Comparison of Lay Perspectives of Older Adults in 13 Countries, 2010-2020.

Successful aging is a concept that has gained popularity and relevance internationally among gerontologists in recent decades. Examining lay older adults' perspectives on successful aging can enhance our understanding of what successful aging means. We conducted a systematic review of peer reviewed studies from multiple countries published in 2010-2020 that contained qualitative responses of lay older adults to open-ended questions such as "What does successful aging mean to you?" We identified 23 studies conducted in 13 countries across North America, Western Europe, the Middle East, Asia, and Oceania.

[Injuries of the sternoclavicular joint].

Injuries of the sternoclavicular joint (SCJ) are rare accounting for 3% of all injuries to the shoulder girdle and are often overlooked. The SCJ is surrounded by tight ligamentous structures, thus substantial energy with corresponding force vectors is needed to cause dislocation. Causative are mostly high-energy traumas.

A Qualitative Analysis of Surgical Faculty and Surgical Resident Perceptions of Potential Barriers to Implementing a Novel Surgical Education Curriculum.

Objective: Sociocultural differences between patients and physicians affect communication, and suboptimal communication can lead to patient dissatisfaction and poor health outcomes. To mitigate disparities in surgical outcomes, the Provider Awareness and Cultural dexterity Toolkit for Surgeons was developed as a novel curriculum for surgical residents focusing on patient-centeredness and enhanced patient-clinician communication through a cultural dexterity framework. This study's objective was to examine surgical faculty and surgical resident perspectives on potential facilitators and barriers to implementing the cultural dexterity curriculum.

Pathogenesis of psoriasis in the "omic" era. Part III. Metabolic disorders, metabolomics, nutrigenomics in psoriasis.

Psoriasis is a systemic disease that is strictly connected with metabolic disorders (insulin resistance, atherogenic dyslipidemia, arterial hypertension, and cardiovascular diseases). It occurs more often in patients with a more severe course of the disease. Obesity is specially an independent risk factor and it is associated with a worse treatment outcome because of the high inflammatory activity of visceral fatty tissue and the production of inflammatory mediators involved in the development of both psoriasis and metabolic disorders.

Red Cell Distribution Width is Associated with 30-day Mortality in Patients with Spontaneous Intracerebral Hemorrhage.

Background: Red cell distribution width (RDW) has been associated with mortality and outcome in a wide variety of non-neurological and neurological diseases, namely in myocardial infarction and acute ischemic stroke, and the reason for this is not completely understood. We aimed to investigate RDW as a potential prognostic marker in patients with intracerebral hemorrhage (ICH).

Methods: This is a retrospective study of consecutive patients with acute non-traumatic ICH admitted to a single center during a 4-year period.

Emergency Carotid Endarterectomy Instead of Carotid Artery Stenting Reduces Delayed Hemorrhage in Thrombectomy Stroke Patients.

Purpose: Data in the literature suggest that thrombectomy with emergency carotid artery stenting (CAS) in acute stroke is associated with an increased hemorrhage rate. As we perform thrombectomy with the patient under general anesthesia, we avoid emergency CAS and perform emergency carotid endarterectomy (CEA) as an alternative to CAS in the same anesthesia session in our angiography suite whenever needed and possible.

Methods: We compared 27 thrombectomy patients with emergency CEA and 62 thrombectomy patients with emergency CAS and glycoprotein (Gp) IIb/IIIa inhibitors and/or dual antiplatelet therapy (DAPT) in the same time span.

Comparison of the impact of childhood psoriasis on mothers' and fathers' quality of life - does gender of a caregiver play a role?

Background: Psoriasis is a chronic skin condition that in one third of cases starts in the first two decades of life. The disease might impact the quality of life (QoL) of the affected children and their caregivers. The issue of gender differences in the assessment of psychological burden of dermatological conditions has been the subject of few studies with contradictory results.

Controls the Maturation of Dendrites, Synaptic Function, and Network Activity in Developing Human Neurons.

is a major genetic risk factor for global developmental delay, autism spectrum disorder, and epileptic encephalopathy. loss-of-function variants in this gene cause a neurodevelopmental disorder defined by cognitive impairment, social-communication disorder, and early-onset seizures. Cell biological studies in mouse and rat neurons have shown that regulates developing excitatory synapse structure and function, with loss-of-function variants driving formation of larger dendritic spines and stronger glutamatergic transmission.

Association of Billed Advance Care Planning with End-of-Life Care Intensity for 2017 Medicare Decedents.

Background/objective: The Centers for Medicare & Medicaid Services (CMS) reimburses clinicians for advance care planning (ACP) discussions with Medicare patients. The objective of the study was to examine the association of CMS-billed ACP visits with end-of-life (EOL) healthcare utilization.

Design: Patient-level analyses of claims for the random 20% Medicare fee-for-service (FFS) sample of decedents in 2017.

Telemedicine, COVID-19, and disparities: Policy implications.

While the rapid expansion of telemedicine in response to the COVID-19 pandemic highlights the impressive ability of health systems to adapt quickly to new complexities, it also raises important concerns about how to implement these novel modalities equitably. As the healthcare system becomes increasingly virtual, it risks widening disparities among marginalized populations who have worse health outcomes at baseline and limited access to the resources necessary for the effective use of telemedicine. In this article, we review recent policy changes and outline important recommendations that governments and health care systems can adopt to improve access to telemedicine and to tailor the use of these technologies to best meet the needs of underserved patients.

Relevance of contact sensitizations in occupational dermatitis patients with special focus on patch testing of workplace materials.

Background: Studies on patch testing with workplace materials and evaluation of current occupational relevance of positive patch test reactions are scarce in patients with occupational dermatitis (OD).

Objectives: To identify frequent sensitizations with occupational relevance and to determine the value of patch testing with workplace materials in OD patients.

Patients And Methods: Results and clinical data of 654 patients with suspected OD patch tested between 2013 and 2017 were analysed.

Contact sensitization in metalworkers: Data from the information network of departments of dermatology (IVDK), 2010-2018.

Background: Metalworkers are exposed to a variety of contact allergens by handling tools, metals, metalworking fluids (MWFs), oils and greases, rubber materials, and so on. Most large-scale reports on contact allergy due to MWFs are more than 10-years-old, and there are only few studies on contact allergy in mechanics and other metal workers not exposed to MWFs.

Objectives: To describe a current spectrum of contact sensitization in metalworkers with occupational dermatitis (OD).

Pathogenesis of psoriasis in the "omic" era. Part II. Genetic, genomic and epigenetic changes in psoriasis.

Psoriasis is a multifactorial disease in which genetic, environmental and epigenetic factors regulating gene expression play a key role. In the "genomic era", genome-wide association studies together with target genotyping platforms performed in different ethnic populations have found more than 50 genetic susceptible markers associated with the risk of psoriasis which have been identified so far. Up till now, the strongest association with the risk of the disease has been proved for HLA-C*06 gene.

Persistence and regredience of intraspinal fluid collection determine symptom control in intracranial hypotension syndrome.

Background And Purpose: An intraspinal fluid collection (ISFC) can be observed on spinal MRI in cases of intracranial hypotension syndrome (IHS). The goal of this study was to analyze the possible persistence of ISFC after therapy and its correlation to clinical disease activity and secondary complications.

Materials And Methods: Twenty patients in our database of 57 patients, who were treated for IHS between 2009 and 2015, fulfilled the inclusion criteria of (a) diagnosed and treated IHS as well as (b) an ISFC in MRI imaging.

Effectiveness of secondary prevention in metalworkers with work-related skin diseases and comparison with participants of a tertiary prevention program: A prospective cohort study.

Background: In Germany, a multistep approach has been established to prevent work-related skin diseases (WRSDs).

Objectives: To evaluate the effect of a secondary individual prevention program (SIP) in metalworkers with WRSD and to compare their characteristics with those of participants of a tertiary individual prevention program (TIP).

Patients And Methods: In a prospective cohort study, metalworkers with WRSD of the hands participating either in the SIP (n = 114) or in the TIP (n = 83) were recruited.

Impact of Childhood Psoriasis on Caregivers' Quality of Life, Measured with Family Dermatology Life Quality Index.

Psoriasis is a chronic skin disease, that often develops below the age of 18. In an integrated approach to childhood psoriasis, the impact of psoriasis on family members merits consideration. In this study, the impact of childhood psoriasis on caregivers (61 mothers and 4 fathers) of 65 children (age range 5-17.

Circadian Rhythms of Perineuronal Net Composition.

Perineuronal nets (PNNs) are extracellular matrix (ECM) structures that envelop neurons and regulate synaptic functions. Long thought to be stable structures, PNNs have been recently shown to respond dynamically during learning, potentially regulating the formation of new synapses. We postulated that PNNs vary during sleep, a period of active synaptic modification.

Comparative Analysis of Cleavage Specificities of Immobilized Porcine Pepsin and Nepenthesin II under Hydrogen/Deuterium Exchange Conditions.

Hydrogen/Deuterium Exchange (HDX) coupled with Mass Spectrometry (HDX-MS) is a sensitive and robust method to probe protein conformational changes and protein-ligand interactions. HDX-MS relies on successful proteolytic digestion of target proteins under acidic conditions to localize perturbations in exchange behavior to protein structure. The ability of the protease to produce small peptides and overlapping fragments and provide sufficient coverage of the protein sequence is essential for localizing regions of interest.

Primary Merkel Cell Carcinoma: A Retrospective Analysis of 31 Cases in Poland.

Introduction: Merkel cell carcinoma (MCC) is a rare, aggressive cutaneous neuroendocrine cancer that typically arises in sun-exposed areas of the skin, especially in the elderly. Significant advances have recently been made regarding skin cancers, but data on cases of MCC are rather limited as these patients are frequently grouped together with other non-melanoma skin cancers (NMSC). Here, we performed an analysis of the clinical profile of patients with MCC in Poland to identify major factors influencing the prognosis.

Genomic insights of body plan transitions from bilateral to pentameral symmetry in Echinoderms.

Echinoderms are an exceptional group of bilaterians that develop pentameral adult symmetry from a bilaterally symmetric larva. However, the genetic basis in evolution and development of this unique transformation remains to be clarified. Here we report newly sequenced genomes, developmental transcriptomes, and proteomes of diverse echinoderms including the green sea urchin (L.