Percutaneous transcatheter treatment for partial anomalous pulmonary right venous connection to the superior caval vein without atrial septal defect.

We developed technique similar to transcatheter treatment for superior sinus venosus defects to treat a patient with a Partial Anomalous Pulmonary Venous Connection of the right upper pulmonary veins (RUPV) without an atrial septal defect. A double transseptal puncture was performed, and the left atrium (LA) was connected with the RUPV using a covered stent. The blood flow from the superior vena cava was directed to the right atrium (RA) using a second covered stent.

De novo retinoic acid receptor beta (RARB) variant associated with microphthalmia and dystonia.

Background: Definition of the individual genotypes that cause a Mendelian phenotype is of great importance both to clinical diagnostics and disease characterization. Heterozygous de novo gain-of-function missense variants in RARB are associated with syndromic microphthalmia 12 (MCOPS12), a developmental disorder characterized by eye malformations and variable involvement of other organs. A subset of patients were described with poorly delineated movement disorders.

Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.

NOTCH1 belongs to the NOTCH family of proteins that regulate cell fate and inflammatory responses. Somatic and germline NOTCH1 variants have been implicated in cancer, Adams-Oliver syndrome, and cardiovascular defects. We describe 7 unrelated patients grouped by the presence of leukoencephalopathy with calcifications and heterozygous de novo gain-of-function variants in NOTCH1.

The context, contribution and consequences of addressing the COVID-19 pandemic: A qualitative exploration of executive nurses' perspectives.

Aims: To explore (1) the context in which nursing executives were working, (2) nursing's contribution to the healthcare response and (3) the impact from delivering healthcare in response to the pandemic.

Design: Retrospective, constructivist qualitative study.

Methods: Individual interviews using a semi-structured interview guide were conducted between 12 February and 29 March 2021.

Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.

A proper interaction between muscle-derived collagen XXV and its motor neuron-derived receptors protein tyrosine phosphatases σ and δ (PTP σ/δ) is indispensable for intramuscular motor innervation. Despite this, thus far, pathogenic recessive variants in the COL25A1 gene had only been detected in a few patients with isolated ocular congenital cranial dysinnervation disorders. Here we describe five patients from three unrelated families with recessive missense and splice site COL25A1 variants presenting with a recognizable phenotype characterized by arthrogryposis multiplex congenita with or without an ocular congenital cranial dysinnervation disorder phenotype.

Current and Future Treatments in Primary Ciliary Dyskinesia.

Primary ciliary dyskinesia (PCD) is a rare genetic ciliopathy in which mucociliary clearance is disturbed by the abnormal motion of cilia or there is a severe reduction in the generation of multiple motile cilia. Lung damage ensues due to recurrent airway infections, sometimes even resulting in respiratory failure. So far, no causative treatment is available and treatment efforts are primarily aimed at improving mucociliary clearance and early treatment of bacterial airway infections.

Cerebrospinal fluid markers in incident pediatric-onset multiple sclerosis: a nationwide study.

To investigate whether cerebrospinal fluid (CSF) markers differ between pediatric-onset multiple sclerosis (PoMS, onset < 18 years) and adult-onset (AoMS), and whether these markers are associated with clinical outcomes among PoMS. Prospective nationwide registry study of incident MS, including persons with a CSF sample < 3 years post-MS onset. We compared CSF oligoclonal band (OCB) status, immunoglobulin G (IgG) index levels, and mononuclear cell count between PoMS and AoMS.

Early age exposure to moisture and mould is related to FeNO at the age of 6 years.

Background: Exposure to indoor moisture damage and visible mold has been found to be associated with asthma and respiratory symptoms in several questionnaire-based studies by self-report. We aimed to define the prospective association between the early life exposure to residential moisture damage or mold and fractional exhaled nitric oxide (FeNO) and lung function parameters as objective markers for airway inflammation and asthma in 6-year-old children.

Methods: Home inspections were performed in children's homes when infants were on average 5 months old.

Is there an impact of the dairy matrix on the survival of Lactobacillus casei Lc-1 during shelf life and simulated gastrointestinal conditions?

Background: The selection of the food matrix to be used as a vehicle for a probiotic culture is important because its chemical composition and physicochemical characteristics can affect probiotic survival during the shelf-life of the product and under simulated gastrointestinal conditions (SGIC). The present study aimed to evaluate the influence of the dairy matrix (chocolate fermented milk beverage, chocolate flan or passion fruit flan) on the survival of Lactobacillus casei Lc-1 during refrigerated storage (4 °C for 21 days) and SGIC.

Results: Chocolate fermented milk beverage and chocolate and passion fruit flans could be considered as matrices for the incorporation of L.

Immunopathogenesis of Pediatric Localized Scleroderma.

Localized scleroderma (LS) is a complex disease characterized by a mixture of inflammation and fibrosis of the skin that, especially in the pediatric population, also affects extracutaneous tissues ranging from muscle to the central nervous system. Although developmental origins have been hypothesized, evidence points to LS as a systemic autoimmune disorder, as there is a strong correlation to family history of autoimmune disease, the presence of shared HLA types with rheumatoid arthritis, high frequency of auto-antibodies, and elevated circulating chemokines and cytokines associated with T-helper cell, IFNγ, and other inflammatory pathways. This inflammatory phenotype of the peripheral blood is reflected in the skin via microarray, RNA Sequencing and tissue staining.

The influence of treatment, age at onset, and metabolic control on height in children and adolescents with type 1 diabetes-A SWEET collaborative study.

Objective: To describe the association between height, demographics, and treatment in youths with type 1 diabetes participating in an international network for pediatric diabetes centers (SWEET).

Methods: Data were collected from 55 centers with documented patients' height. All subjects below 20 years of age, diabetes duration >1 year, and without celiac disease were included.

Pharmacokinetics, Short-term Safety and Efficacy of the Approved Once-daily Darunavir/Ritonavir Dosing Regimen in HIV-infected Children.

In this multicenter pharmacokinetic study in HIV-infected children (6-12 years of age), we validated the approved once-daily darunavir/ritonavir dosing recommendations. The geometric mean darunavir area under the plasma concentration-time curve was 63.1 h·mg/L, substantially lower than the mean value observed in adults.

Scabies, Periorbital Cellulitis and Recurrent Skin Abscesses due to Panton-Valentine Leukocidin-Positive Staphylococcus aureus Mimic Hyper IgE Syndrome in an Infant.

We describe the clinical course of a 2-month-old infant who was evaluated for autosomal dominant Hyper IgE Syndrome based on eczema, periorbital cellulitis, skin abscesses, increased total IgE levels and blood eosinophilia. However, scabies and nasal colonization by Panton-Valentine Leucocidin-positive S. aureus were eventually diagnosed.

Reciprocal regulation of the Il9 locus by counteracting activities of transcription factors IRF1 and IRF4.

The T helper 9 (Th9) cell transcriptional network is formed by an equilibrium of signals induced by cytokines and antigen presentation. Here we show that, within this network, two interferon regulatory factors (IRF), IRF1 and IRF4, display opposing effects on Th9 differentiation. IRF4 dose-dependently promotes, whereas IRF1 inhibits, IL-9 production.

PDE3 inhibition with enoximone as first-line therapy for severe persistent pulmonary hypertension of the newborn during neonatal transport: a case report.

Severe Persistent pulmonary hypertension of the newborn (PPHN) can be effectively treated with a PDE3 inhibitor as first-line treatment during neonatal transport when iNO is not readily available. Starting iNO as soon as possible is strongly advised because of the complementary actions of both therapeutics.

Natural Killer (NK) Cell Functionality after human Spinal Cord Injury (SCI): protocol of a prospective, longitudinal study.

Background: Natural killer (NK) cells comprise the main components of lymphocyte-mediated nonspecific immunity. Through their effector function they play a crucial role combating bacterial and viral challenges. They are also thought to be key contributors to the systemic spinal cord injury-induced immune-deficiency syndrome (SCI-IDS).

Autosomal recessive brachyolmia: early radiological findings.

Brachyolmia (BO) is a heterogeneous group of skeletal dysplasias with skeletal changes limited to the spine or with minimal extraspinal features. BO is currently classified into types 1, 2, 3, and 4. BO types 1 and 4 are autosomal recessive conditions caused by PAPSS2 mutations, which may be merged together as an autosomal recessive BO (AR-BO).

A Pilot Study on Developing a Standardized and Sensitive School Violence Risk Assessment with Manual Annotation.

School violence has increased over the past decade and innovative, sensitive, and standardized approaches to assess school violence risk are needed. In our current feasibility study, we initialized a standardized, sensitive, and rapid school violence risk approach with manual annotation. Manual annotation is the process of analyzing a student's transcribed interview to extract relevant information (e.

Real-time discrimination between proliferation and neuronal and astroglial differentiation of human neural stem cells.

Neural stem cells (NSCs) are characterized by a capacity for self-renewal, differentiation into multiple neural lineages, all of which are considered to be promising components for neural regeneration. However, for cell-replacement therapies, it is essential to monitor the process of in vitro NSC differentiation and identify differentiated cell phenotypes. We report a real-time and label-free method that uses a capacitance sensor array to monitor the differentiation of human fetal brain-derived NSCs (hNSCs) and to identify the fates of differentiated cells.