"I'm His Voice": Parent Perspectives on Obtaining an Autism Diagnosis and Services and the Influence of Personal and Cultural Factors.

To assess caregiver-reported barriers and facilitators to receiving a diagnosis of Autism Spectrum Disorder (ASD) and accessing services as well as the influence of personal and cultural factors.Participants included 29 parents whose children had been diagnosed with ASD between January 2019 and November 2021 while receiving primary care at one of two urban, hospital-affiliated clinics. Semi-structured interviews and surveys were conducted between May 2022 and June 2023 in both English and Spanish.

Relationship among sleep, work features, and SARS-cov-2 vaccine antibody response in hospital workers.

Study Objectives: Immunity is influenced by sleep and the circadian rhythm. Healthcare workers are predisposed to both insufficient sleep and circadian disruption. This study aimed to evaluate the relationship between sleep and work characteristics and the antibody response to the mRNA SARS-CoV-2 vaccine BNT162b2.

BioNTech COVID-19 (BNT162b2) Vaccination and Varicella Zoster Reactivation: A Comprehensive Cross-sectional Study.

Herpes zoster (HZ) results from reactivation of latent varicella-zoster virus. Recent observations have suggested that HZ is associated with vaccination against COVID-19. To investigate the association between the vaccine and HZ severity, a single-centre, cross-sectional study of all patients diagnosed with HZ and 2 control diagnoses (cellulitis and bone fractures), between 2017 and 2021, was performed.

Improving Asthma Action Plan Completion Rates across Five Divisions in an Academic Children's Hospital.

Introduction: Asthma is the most common chronic disease among children. Asthma Action Plans (AAPs) enable asthma self-management tailored to each patient and should be updated annually. At our institution, providers face challenges in creating reliable processes to consistently complete AAPs for patients with asthma.

SNG100, a novel topical treatment for moderate atopic dermatitis, in patients aged 6 years or older: A randomised, double-blind, active-controlled trial.

Background: Atopic dermatitis (AD) is one of the most common inflammatory skin diseases. It is associated with significant itch and impaired quality of life. Systemic treatments are efficient but associated with side effects.

Impact of the COVID-19 Pandemic on Childhood Lead Testing and Blood Lead Levels.

Objective: To evaluate the effect of the COVID-19 pandemic on childhood lead testing and blood lead levels.

Methods: A retrospective analysis of lead tests and results was performed across 3 urban medical centers during the pre-COVID-19 (March 10, 2019-March 9, 2020) and COVID-19 (March 10, 2020-March 10, 2022) periods. Interrupted time series analysis with quasi-Poisson regression was used to evaluate changes in lead testing between study periods.

Categorization of a Universal Coding System to Distinguish Use of Durable Medical Equipment and Supplies in Pediatric Patients.

Importance: Although durable medical equipment and supplies (DMES) are commonly used to optimize the health and function in pediatric patients, little is known about the prevalence of use and spending on DMES.

Objective: To categorize the Healthcare Common Procedure Coding System (HCPCS) for distinguishing DMES types, and to measure the prevalence and related spending of DMES in pediatric patients using Medicaid.

Design, Setting, And Participants: This study is a cross-sectional analysis of the 2018 Merative Medicaid Database and included 4 569 473 pediatric patients aged 0 to 21 years enrolled in Medicaid in 12 US states from January 1 to December 31, 2018.

Proteolytic and Antiproteolytic Activity in the Skin: Gluing the Pieces Together.

Epidermal differentiation is ultimately aimed at the formation of a functional barrier capable of protecting the organism from the environment while preventing loss of biologically vital elements. Epidermal differentiation entails a delicately regulated process of cell-cell junction formation and dissolution to enable upward cell migration and desquamation. Over the past two decades, the deciphering of the genetic basis of a number of inherited conditions has delineated the pivotal role played in this process by a series of proteases and protease inhibitors, including serpins, cathepsins, and cystatins, suggesting novel avenues for therapeutic intervention in both rare and common disorders of cornification.

Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa.

Background: Epidermolysis bullosa (EB) features skin and mucosal fragility due to pathogenic variants in genes encoding components of the cutaneous basement membrane. Based on the level of separation within the dermal-epidermal junction, EB is sub-classified into four major types including EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler EB (KEB) with 16 EB-associated genes reported to date.

Methods: We ascertained a cohort of 151 EB patients of various Middle Eastern ethnic backgrounds.

Nurturing next generation physicians: A new Israeli healthtech fellowship.

The Israeli Society for HealthTech aims at advancing the integration of innovation and healthcare entrepreneurship into medical practice and across traditional health professions, to benefit patients and improve quality of care. In 2021, the Society launched the first fellowship for board certified physicians in HealthTech. This backstory discusses the motivation of launching the program and reviews the design of the fellowship, including curriculum, the expertise of the lecturers, and initial tangible results of the program.

Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4.

Frontonasal dysplasia (FND) refers to a group of rare developmental disorders characterized by abnormal morphology of the craniofacial region. We studied a family manifesting with clinical features typical for FND2 including neurobehavioral abnormalities, hypotrichosis, hypodontia, and facial dysmorphism. Whole-exome sequencing analysis identified a novel heterozygous frameshift insertion in ALX4 (c.

MicroRNA-200b-mediated reversion of a spectrum of epithelial-to-mesenchymal transition states in recessive dystrophic epidermolysis bullosa squamous cell carcinomas.

Background: Cutaneous squamous cell carcinoma (SCC) is the leading cause of death in patients with recessive dystrophic epidermolysis bullosa (RDEB). However, the survival time from first diagnosis differs between patients; some tumours spread particularly fast, while others may remain localized for years. As treatment options are limited, there is an urgent need for further insights into the pathomechanisms of RDEB tumours, to foster therapy development and support clinical decision-making.

Scarring Alopecia in Tumor Necrosis Factor-α Antagonists-Induced Scalp Psoriasis.

Background: A broad spectrum of adverse reactions associated with the use of tumor necrosis factor alpha (TNFα) antagonists has been recognized over the past years. Induction of scalp psoriasis is a less known undesirable consequence of the use of these drugs and is not well characterized.

Objective: To characterize TNFα inhibitors-induced psoriatic alopecia.

Diacerein 1% Ointment for the Treatment of Epidermolysis Bullosa Simplex: A Randomized, Controlled Trial.

Background: In epidermolysis bullosa simplex (EBS), epithelial structural fragility results in blisters and erosions. Diacerein 1% ointment has been shown to reduce this blistering.

Objective: To evaluate the efficacy and safety of diacerein 1% ointment in the treatment of EBS.

Defective cathepsin Z affects EGFR expression and causes autosomal dominant palmoplantar keratoderma.

Background: The abnormal function of epidermal growth factor receptor (EGFR) has recently been shown to underlie various disorders of cornification.

Objectives: To delineate the genetic basis of a novel dominant form of palmoplantar keratoderma (PPK).

Methods: Whole-exome (WES) and direct sequencing, quantitative real-time polymerase chain reaction, protein modelling, confocal immunofluorescence microscopy, immunoblotting, three-dimensional skin equivalents and an enzyme activity assay were used to delineate the genetic basis of a novel dominant form of PPK.

Coexistence of malignancies in pemphigus vulgaris.

Pemphigus vulgaris (PV) is a rare autoimmune intraepidermal bullous disease. PV has a major effect on morbidity as well as quality of life. There is sparse literature regarding the association between pemphigus vulgaris (PV) and comorbid malignancies.

Woolly hair in tricho-dento-osseous syndrome.

Tricho-dento-osseous syndrome (TDOS) is a rare ectodermal dysplasia caused by mutations in the DLX3 gene and it is not usually included as a cause of syndromic woolly hair. We present a new case of TDOS with a novel DLX3 variant and woolly hair.

S2k guidelines on the management of paraneoplastic pemphigus/paraneoplastic autoimmune multiorgan syndrome initiated by the European Academy of Dermatology and Venereology (EADV).

Background: Paraneoplastic pemphigus (PNP), also called paraneoplastic autoimmune multiorgan syndrome (PAMS), is a rare autoimmune disease with mucocutaneous and multi-organ involvement. PNP/PAMS is typically associated with lymphoproliferative or haematological malignancies, and less frequently with solid malignancies. The mortality rate of PNP/PAMS is elevated owing to the increased risk of severe infections and disease-associated complications, such as bronchiolitis obliterans.