Patient and parent knowledge, understanding, and concerns after a new diagnosis of Ehlers Danlos syndrome.

Introduction: After diagnosis of Ehlers Danlos Syndrome (EDS), it is unclear what information patients and parents need and understand about EDS. The objective of this study is to characterize patient and parent knowledge and concerns about EDS after a diagnosis of EDS is made to determine patient and parent concerns and identify barriers that cause discomfort with the diagnosis.6 METHODS: A convenience sample of patient and parent dyads were recruited after new diagnosis of EDS.

MtlD as a therapeutic target for intestinal and systemic bacterial infections.

Unlabelled: The ability to treat infections is threatened by the rapid emergence of antibiotic resistance among pathogenic microbes. Therefore, new antimicrobials are needed. Here we evaluate mannitol-1-phosphate 5-dehydrogenase (MtlD) as a potential new drug target.

Tianeptine Exposures Reported to United States Poison Centers, 2015-2023.

Introduction: Tianeptine is an atypical tricyclic antidepressant not approved for medical use in the US but is found in dietary supplements. This study investigates single-substance tianeptine exposures reported to US poison centers.

Methods: We analyzed cases involving tianeptine reported to the National Poison Data System from 2015 to 2023.

Corrigendum: Radiotherapy and breast cancer: finally, an lncRNA perspective on radiosensitivity and radioresistance.

[This corrects the article DOI: 10.3389/fonc.2024.

Functional role of the biofilm regulator CsgD in sv. Typhi.

Introduction: Typhoid fever is an infectious disease primarily caused by sv. Typhi ( Typhi), a bacterium that causes as many as 20 million infections and 600,000 deaths annually. Asymptomatic chronic carriers of S.

Employing splice-switching oligonucleotides and AAVrh74.U7 snRNA to target insulin receptor splicing and cancer hallmarks in osteosarcoma.

Patients with osteosarcoma (OS), a debilitating pediatric bone malignancy, have limited treatment options to combat aggressive disease. OS thrives on insulin growth factor (IGF)-mediated signaling that can facilitate cell proliferation. Previous efforts to target IGF-1R signaling were mostly unsuccessful, likely due to compensatory signaling through alternative splicing of the insulin receptor () to the proliferative isoform.

CleftTok: An Analysis of Cleft-Related Content on TikTok.

To analyze the content and sources of TikTok posts regarding cleft conditions; to examine the quality and reliability of educational content related to cleft conditions. Cross-sectional, observational study of cleft-related TikTok content. N/A.

Neutrophil NADPH oxidase promotes bacterial eradication and regulates NF-κB-Mediated inflammation via NRF2 signaling during urinary tract infections.

The precise role of neutrophil-derived reactive oxygen species (ROS) in combating bacterial uropathogens during urinary tract infections (UTI) remains largely unexplored. In this study, we elucidate the antimicrobial significance of NADPH oxidase 2 (NOX2)-derived ROS, as opposed to mitochondrial ROS, in facilitating neutrophil-mediated eradication of uropathogenic Escherichia coli (UPEC), the primary causative agent of UTI. Furthermore, NOX2-derived ROS regulate NF-κB-mediated inflammatory responses in neutrophils against UPEC by inducing the release of nuclear factor erythroid 2-related factor 2 (Nrf2) from its inhibitor, Kelch-like ECH-associated protein 1 (Keap1).

Should healthcare organizations be accountable for child community health indicators at the community level?

Purpose Of Review: This paper reviews options for including community health accountability metrics for child healthcare systems, international and regional experience with such metrics, and some specific candidates for metric consideration.

Recent Findings: The inclusion of community metrics in child health accountability systems requires expanded accountability frameworks and re-education of clinicians. Most of the experience with use of community metrics in accountability systems comes from international settings.

Psychometric evaluation of the PROMIS parent proxy mobility item bank for use in Duchenne muscular dystrophy.

Aim: To evaluate the psychometric properties and measurement quality of the Patient-Reported Outcomes Measurement Information System Parent Proxy (PROMIS PP) Mobility item bank (v1.0, 23 items) for children with Duchenne muscular dystrophy (DMD), through Rasch statistical analysis.

Method: De-identified PROMIS PP Mobility items were completed by the caregivers of male patients with DMD, aged 4 to 12 years, as part of standard clinical care at the Nationwide Children's Hospital clinic; data were mined retrospectively from electronic health records.

Prevalence and Genetic Diversity of Respiratory Syncytial Virus Reinfections in Young Thai Children, 2016-2023.

Although a vaccine for respiratory syncytial virus (RSV) is now available for pregnant women and the elderly, RSV remains a significant cause of respiratory illness in children globally. Reinfections by the same or different RSV subgroups in children residing in the tropics are currently under-studied. Therefore, we examined the patterns of RSV infection and reinfection in Thai children aged ≤ 5 years with respiratory symptoms from 2016 to 2023.

Prevalence of psychosocial interventions for pediatric dog bite injury: Is the bark actually worse than the bite?

Purpose: Long-term psychological effects may occur after childhood dog bite injuries. We performed a national survey to assess psychosocial interventions for children presenting with dog bite injuries to pediatric trauma centers.

Methods: A 26-question, online survey was administered to Pediatric Trauma Program Managers in the United States ( = 83).

PPARγ Promotes Urothelial Remodeling During Urinary Tract Obstruction.

Urinary tract obstruction (UTO) is a common cause of kidney injury that can result in chronic kidney disease and end-stage renal disease. Heterogeneity in the extent of obstructive renal damage in humans with UTO implies the existence of unknown mechanisms that protect against or accelerate kidney injury. Prior studies show that congenital and acquired UTO initiate a conserved, protective program of renal urothelium remodeling that culminates in expansion of uroplakin (UPK)+ cells to promote renal structural integrity.

Making sense of missense: challenges and opportunities in variant pathogenicity prediction.

Computational tools for predicting variant pathogenicity are widely used to support clinical variant interpretation. Recently, several models, which do not rely on known variant classifications during training, have been developed. These approaches can potentially overcome biases of current clinical databases, such as misclassifications, and can potentially better generalize to novel, unclassified variants.

Prospective observational study of FKRP-related limb-girdle muscular dystrophy R9: A GRASP consortium study.

Objective: Limb-girdle muscular dystrophy R9 (LGMDR9, formerly known as LGMD2I), caused by variants in the fukutin-related protein (FKRP) gene leads to progressive muscle weakness of the shoulder and pelvic limb-girdles and loss of motor function over time. Clinical management and future trial design are improved by determining which standardized clinical outcome assessments (COA) of function are most appropriate to capture disease presentation and progression, informing endpoint selection and enrollment criteria. The purpose of our study was to evaluate the cross-sectional validity and reliability of clinical outcome assessments in patients with FKRP-related LGMDR9 participating in the Genetic Resolution and Assessments Solving Phenotypes in LGMD (GRASP) natural history study.

The Neisseria meningitidis urethritis clade (NmUC) acts as a "chimeric pathogen" during infection of primary, human male, urethral epithelial cells.

Background: Clusters of male urethritis cases, caused by a novel clade of non-groupable Neisseria meningitidis (NmUC, "the clade"), have been reported globally. Genetic features unique to NmUC isolates include: the acquisition of the gonococcal denitrification loci, norB-aniA; a unique factor H binding protein (fHbp) variant; and loss of group C capsule and intrinsic lipooligosaccharide sialylation. We hypothesized that these characteristics might confer a colonization and survival advantage to NmUC during male urethral infection relative to non-clade group C Neisseria meningitidis.

RPA and Rad27 limit templated and inverted insertions at DNA breaks.

Formation of templated insertions at DNA double-strand breaks (DSBs) is very common in cancer cells. The mechanisms and enzymes regulating these events are largely unknown. Here, we investigated templated insertions in yeast at DSBs using amplicon sequencing across a repaired locus.

CRISPR-Cas9-Mediated Correction of Pathogenic Variants in iPSCs from Patients with Tuberous Sclerosis Complex Type 2.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in either the or genes. Though TSC causes the formation of nonmalignant tumors throughout multiple organs, the most frequent causes of mortality and morbidity are due to neurological complications. In two-thirds of cases, TSC occurs sporadically and pathogenic variants are approximately three times more prevalent than pathogenic variants.

Practical guide for disease-modifying medication management of children and adolescents with sickle cell disease.

Hydroxyurea has historically been the sole disease-modifying medication (DMM) for sickle cell disease (SCD). However, 3 newer DMMs, L-glutamine, voxelotor, and crizanlizumab, were approved for children and adolescents with SCD since 2017. Despite their emergence, treatment barriers, including access, affordability, and nonadherence, limit the optimization of DMMs in the clinical setting.

A temporary cholesterol-rich diet and bacterial extracellular matrix factors favor spp. biofilm formation in the cecum.

Asymptomatic chronic carriers occur in approximately 5% of humans infected with serovar Typhi (. Typhi) and represent a critical reservoir for bacterial dissemination. While chronic carriage primarily occurs in the gallbladder (GB) through biofilms on gallstones, additional anatomic sites have been suggested that could also harbor .

Online driver license renewal and road user injury and fatality in Washington State.

Objectives: Washington State implemented a new policy in 2004 that allowed drivers younger than 70 years old to renew their driver license by mail or online at every other renewal. Drivers aged 70 years and older were still required to renew in-person every 6 years. The purpose of this study was to evaluate whether this policy change was associated with motor vehicle crash (MVC) injury and fatality among drivers, non-drivers, and all road users aged 45-69 years.

Methods for detecting and monitoring Salmonella infection and chronic carriage in living mice using bioluminescent in vivo imaging.

serovar Typhi primarily persists in chronic carriers by forming biofilms on gallstones in the gallbladder. We have developed a gallstone mouse model to study chronic carriage. To better understand the infection timeline and differentiate between mice that have maintained long-term gallbladder carriage from those that have cleared infection, we utilized bioluminescent .