Health-Related Quality of Life During Carfilzomib-Lenalidomide-Dexamethasone Consolidation: Findings From the Multiple Myeloma CONPET Study.

Background: In the CONPET study, multiple myeloma patients with abnormal 18FDG positron emission/computed tomography scan after upfront autologous stem cell transplantation were treated with four cycles of carfilzomib-lenalidomide-dexamethasone (KRd). Side effect registrations show that carfilzomib might cause dyspnea, cough, respiratory tract infections, and heart failure. The aims were to investigate patient-reported shortness of breath and dyspnea during KRd consolidation.

A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment.

Gain-of-function variants in GFAP leads to protein aggregation and is the cause of the severe neurodegenerative disorder Alexander Disease (AxD), while loss of GFAP function has been considered benign. Here, we investigated a six-generation family, where multiple individuals presented with gliosis of the optic nerve head and visual impairment. Whole genome sequencing (WGS) revealed a frameshift variant in GFAP (c.

Embryonic manipulations shape life-long, heritable stress responses through complex epigenetic mechanisms: a review.

Enhancing an organism's likelihood of survival hinges on fostering a balanced and adaptable development of robust stress response systems. This critical process is significantly influenced by the embryonic environment, which plays a pivotal role in shaping neural circuits that define the stress response set-point. While certain embryonic conditions offer advantageous outcomes, others can lead to maladaptive responses.

Utilizing nutrient type compounds as anti-bacterial compounds: arginine and cysteine inhibit survival in egg white.

Because of growing levels of antibiotic resistance, new methods to combat bacteria are needed. We hypothesized that because bacteria evolved to survive in specific environments, the addition of compounds, including nutrient type compounds, to an environment, might result in a modification of that environment that will disrupt bacterial growth or in maladaptive bacterial behavior, i.e.

Assessment of PSA responses and changes in the rate of tumor growth (g-rate) with immune checkpoint inhibitors in US Veterans with prostate cancer.

We examined data from US Veterans with prostate cancer (PC) to assess disease response to immune checkpoint inhibitors (ICI) as monotherapy or combined with abiraterone or enzalutamide to assess ICI efficacy in the real-world. We queried the VA corporate data warehouse (CDW) to identify Veterans with a diagnosis of PC who received ICI for any malignancy and had ≥1 PSA measurement while receiving ICI. To evaluate ICI monotherapy, we restricted analysis to Veterans who had not received LHRH agonists/antagonists, PC-directed medical therapy, or radiation/extirpative surgery of the bladder/prostate within and preceding the duration of ICI administration.

Temporal changes in incidence, prevalence and causes of childhood visual impairment - Learnings from 45 years with the National Danish Registry of Children with Visual Impairment.

Purpose: The aim of the study was to describe the temporal changes in causes and prevalence of childhood visual impairment in Denmark based on the National Danish Registry of Children with Visual Impairment (NDRCVI).

Methods: Annual reports on the NDRCVI since its establishment in 1979 were reviewed and data on the number of registered children and the causes for registration with a visual impairment were evaluated.

Results: The average annual incidence of childhood visual impairment in Denmark is 2.

Sirolimus for vascular anomalies in the first year of life: a systematic review.

Evidence on effectiveness and safety of sirolimus in congenital vascular anomalies in infancy is lacking. We aim to systematically review the efficacy and safety of sirolimus in treating congenital VA in infancy. We searched for and included all studies evaluating sirolimus for VA in the first year of life.

Making decisions for follow-up chemotherapy based on digital patient reported outcomes data in patients with multiple myeloma and other M protein diseases - A mixed method study.

Objectives: To test if Patient Reported Outcomes (PRO) data can replace physical on-site consultation in determining if patients with multiple myeloma, AL amyloidosis, or plasma cell leukemia are ready for their next bortezomib treatment without dose reduction.

Methods: We developed an online questionnaire addressing common side effects to bortezomib and an algorithm stratifying patients according to their responses and asked them to complete the questionnaire the day before attending the clinic. Applying a mixed-method study design of PRO data, time registrations, and interviews with patients and healthcare professionals, we tested the usability of electronic PRO data forming the basis of decision-making on whether patients are physically fit for the next treatment with an unchanged dose.

Predictors of referrals and depression outcomes among obstetrics and gynecology patients with positive depression screens.

Introduction: Little is known about the care provided following positive depression screens in obstetrics and gynecology (Ob/Gyn) patients.

Method: This study evaluated documented care plans and outcomes for 445 Ob/Gyn patients with positive depression screens between January 2018 and December 2020. Logistic regression models were estimated to identify predictors of changes in documented care plans and to test if a documented plan was associated with a reduction in depression severity in 6 months.

Team-based home blood pressure monitoring for blood pressure equity a protocol for a stepped wedge cluster randomized trial.

Background: Home Blood Pressure Monitoring (HBPM) that includes a team with a clinical pharmacist is an evidence-based intervention that improves blood pressure (BP). Yet, strategies for promoting its adoption in primary care are lacking. We developed potentially feasible and sustainable implementation strategies to improve hypertension control and BP equity.

Current Open Trials and Molecular Update for Pediatric Embryonal Tumors.

Background: Embryonal tumors are highly malignant cancers of the central nervous system, with a relatively high incidence in infants and young children. Even with intensive multimodal treatment, the prognosis of many types is guarded, and treatment-related toxicity is significant. Recent advances in molecular diagnostics allowed the discovery of novel entities and inter-tumor subgroups, with opportunities for improved risk-stratification and treatment approaches.

Addressing Sexual Harassment and Gender Bias: Mandatory Modules Are Not Enough.

Background And Objectives: Despite decades of new policy guidelines and mandatory training modules, sexual harassment (SH) and gender bias (GB) continue in academic medicine. The hierarchical structure of medical training makes it challenging to act when one experiences or witnesses SH or GB. Most trainings designed to address SH and GB are driven by external mandates and do not utilize current educational techniques.

American society of pediatric otolaryngology vascular anomalies task force review of tongue venous malformations: Techniques, pearls, and pitfalls.

Management of tongue venous malformations can be challenging in the pediatric population due to their heterogeneity in presentation, extent of involvement and functional compromise. It is important to recognize the value of various treatment options in order to guide management of each patient in an individualized fashion. Here we describe a series of patients with tongue venous malformations that are managed using diverse modalities to illustrate the relative benefits and risks of each technique.

Recent progress and novel approaches to treating atypical teratoid rhabdoid tumor.

Atypical teratoid rhabdoid tumors (AT/RT) are malignant central nervous system (CNS) tumors that occur mostly in young children and have historically carried a very poor prognosis. While recent clinical trial results show that this tumor is curable, outcomes are still poor compared to other central nervous system embryonal tumors. We here review prior AT/RT clinical trials and highlight promising pre-clinical results that may inform novel clinical approaches to this aggressive cancer.

No Association of Sirolimus with Wound Complications in Children With Vascular Anomalies.

Introduction: Sirolimus has demonstrated effectiveness as a treatment option for several types of vascular anomalies; however, it has a potential side effect of delayed surgical wound healing. The purpose of this study was to evaluate the association of sirolimus with postoperative complications in the pediatric vascular anomaly population.

Methods: A retrospective cohort study was performed for children with a vascular anomaly who underwent excision or debulking of the anomaly from 2015 to 2020.

In individuals with Williams syndrome, dysregulation of methylation in non-coding regions of neuronal and oligodendrocyte DNA is associated with pathology and cortical development.

Williams syndrome (WS) is a neurodevelopmental disorder caused by a heterozygous micro-deletion in the WS critical region (WSCR) and is characterized by hyper-sociability and neurocognitive abnormalities. Nonetheless, whether and to what extent WSCR deletion leads to epigenetic modifications in the brain and induces pathological outcomes remains largely unknown. By examining DNA methylation in frontal cortex, we revealed genome-wide disruption in the methylome of individuals with WS, as compared to typically developed (TD) controls.

Psoralen as a Photosensitizers for Photodynamic Therapy by Means of In Vitro Cherenkov Light.

Possible enhancements of DNA damage with light of different wavelengths and ionizing radiation (Rhenium-188-a high energy beta emitter (Re-188)) on plasmid DNA and FaDu cells via psoralen were investigated. The biophysical experimental setup could also be used to investigate additional DNA damage due to photodynamic effects, resulting from Cherenkov light. Conformational changes of plasmid DNA due to DNA damage were detected and quantified by gel electrophoresis and fluorescent staining.

Child abuse and eating disorder symptoms: Shedding light on the contribution of identification with the aggressor.

Background: Childhood abuse has been increasingly recognized as a risk factor for eating disorder symptoms. Additionally, it has been demonstrated that childhood abuse may lead to identification with the aggressor, an automatic defensive process, to survive the abuse. Although it has been clinically implied, the role of identification with the aggressor as a potential mechanism underlying the relation between childhood abuse and eating disorder symptoms has not yet been empirically explored.

Early removal of a permanent catheter during the acute management of the unstable pediatric hemato-oncology patient with suspected catheter-related bloodstream infection: a multi-disciplinary survey and review of the literature.

Unlabelled: There are no guidelines for the optimal manner and timing of permanent central catheter removal in the hemodynamically unstable pediatric hemato-oncology patient with suspected catheter-related bloodstream infections (CRBSI). Our goals were to examine current practices of permanent central catheter management and choice of removal in the hemodynamically unstable pediatric patient with suspected CRBSI among practitioners in diverse subspecialties. We performed a literature review on the subject, and conducted a multi-disciplinary survey included pediatric oncologists, pediatric emergency medicine physicians, and pediatric intensive care physicians whom we queried about their choice of permanent central catheter management and removal while treating the hemodynamically unstable pediatric patient with suspected CRBSI.

Update on Vascular Anomalies of the Head and Neck.

Vascular anomalies of the head and neck is an evolving field, with more recent focus on identifying and understanding the underlying genetic and molecular causes for these lesions. Medical therapies for some of these vascular anomalies have been developed. Many complex vascular anomalies require multimodality therapy, and other lesions could be treated with any of a variety of the available therapies.

Molecular genetics of paediatric brain tumours and opportunities for precision medicine - a focus on infant tumours.

Purpose Of Review: The last few decades have seen an explosion in our understanding of the molecular drivers of childhood brain tumours. These insights have opened the possibility for precision medicine approaches for some tumour types. However, a different spectrum of tumours is more likely to occur in infants and young children, who face additional therapeutic challenges.