Radiotherapy-induced Hypothalamic-Pituitary axis dysfunction in adult Brain, head and neck and skull base tumor patients - A systematic review and Meta-Analysis.

Background And Purpose: Radiotherapy for brain, head & neck (HN), and skull base (SB) tumors may deliver significant radiation dose to the hypothalamic-pituitary axis (HPA), leading to impaired functioning of this region and hence, to endocrine disorders. The purpose of this systematic review and -analysis is to investigate literature on HP dysfunction after radiation for non-pituitary brain, HN, or SB tumors at adult age, aiming to give insight in the prevalence of HP dysfunction related to radiation dose.

Materials And Methods: Literature search of the PubMed database was performed for HP dysfunction after radiotherapy in adult patients.

Dominant negative mutations cause ADA2 deficiency in heterozygous carriers.

Human ADA2 deficiency (DADA2) is an inborn error of immunity with a broad clinical phenotype which encompasses vasculopathy including livedo racemosa and lacunar strokes, as well as hemato-immunological features. Diagnosis is based on the combination of decreased serum ADA2 activity and the identification of biallelic deleterious alleles in the gene. DADA2 carriers harbor a single pathogenic variant in and are mostly considered healthy and asymptomatic.

Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency.

G6PC3 deficiency is a monogenic immunometabolic disorder that causes severe congenital neutropenia type 4. Patients display heterogeneous extra-hematological manifestations, contributing to delayed diagnosis. Here, we investigated the origin and functional consequence of the G6PC3 c.

Comparison of Hematological Markers between Right Ureteral Stone and Acute Appendicitis.

Referrals to emergency services are frequently made for acute appendicitis and renal colic. This conundrum of patients with acute appendicitis and right ureteral stones frequently presents itself to emergency physicians. The hematological parameters of patients suffering from acute appendicitis and right ureteral stones were compared in this study.

A Dutch paediatric palliative care guideline: a systematic review and recommendations on advance care planning and shared decision-making.

Background: In paediatric palliative care, children with life-threatening and life-limiting conditions, their families, and their health care professionals often face difficult decisions about treatment, goals of care, and delivery of care. Advance care planning and shared decision-making are strategies that can improve quality of care by discussing goals and preferences on future care. In this paper, we provide recommendations that aim to optimise advance care planning and shared decision-making in paediatric palliative care in the Netherlands.

Recording diagnostic conversations for communication research purposes in pediatric leukemia.

Recordings of patient-doctor interactions is a recommended method in communication research. However, concerns are expressed regarding audio-recording of conversations with vulnerable patients. Our study examined experiences of children, parents, and oncologists with recording diagnostic conversations in the pediatric acute leukemia setting.

Proteogenomic analysis integrated with electronic health records data reveals disease-associated variants in Black Americans.

BACKGROUNDMost GWAS of plasma proteomics have focused on White individuals of European ancestry, limiting biological insight from other ancestry-enriched protein quantitative loci (pQTL).METHODSWe conducted a discovery GWAS of approximately 3,000 plasma proteins measured by the antibody-based Olink platform in 1,054 Black adults from the Jackson Heart Study (JHS) and validated our findings in the Multi-Ethnic Study of Atherosclerosis (MESA). The genetic architecture of identified pQTLs was further explored through fine mapping and admixture association analysis.

Parents' and healthcare professionals' experiences with the content of an individual care plan for pediatric palliative care: a mixed-method study.

Background: The Individual Care Plan (ICP) for pediatric palliative care translates the general guideline recommendations into a personalized plan for the child. Various documents exist in pediatrics globally, aimed at facilitating anticipatory care or coordinating end-of-life care. The ICP aims both, but user experiences have not been studied post-development.

Interviewing people on sensitive topics: challenges and strategies.

Interviewing participants on sensitive topics is challenging and requires carefully planned and executed strategies throughout the research process. Sensitive topics have the potential to cause distress to participants or researchers. In this methods paper, strategies for conducting interviews on sensitive topics are described, including choosing the appropriate interview approach, creating a safe and comfortable environment, building rapport, utilizing sensitive and open questioning, reflexivity of the researcher, and awareness of the potential therapeutic effect of the interviews on participants.

Targeting Specific Kinase Substrates Rescues Increased Colitis Severity Induced by the Crohn's Disease-Linked LRRK2-N2081D Variant.

LRRK2 contains a kinase domain where both the N2081D Crohn's disease (CD) risk and the G2019S Parkinson's disease (PD)-pathogenic variants are located. The mechanisms by which the N2081D variant increase CD risk, and how these adjacent mutations result in distinct diseases, remain unclear. To investigate the pathophysiology of the CD-linked LRRK2 N2081D variant, we generated a knock-in (KI) mouse model and compared its effects to those of the LRRK2-G2019S mutation.

The Practical Application of the Individual Care Plan for Pediatric Palliative Care: A Mixed-Method Study.

Background/objective: The Individual Care Plan (ICP) for pediatric palliative care was developed to provide person-centered care for the individual child and family. Currently, a lack of clarity remains regarding the use and function of the ICP in daily practice. To further implement the ICP, it is important to identify how parents and healthcare professionals use the ICP and which obstacles or benefits are experienced.

Experiences with a national team-based learning program for advance care planning in pediatric palliative care.

Background: Advance Care Planning (ACP) enables patients and relatives to define and share values, goals and preferences for future medical treatment and care. The IMplementing Pediatric Advance Care Planning Toolkit (IMPACT), developed in the Netherlands, is a method for conducting ACP in pediatric palliative care. Healthcare professionals who were trained to use IMPACT, indicated their need for ongoing support to practice ACP communication skills optimally over time.

Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.

G6PC3 deficiency is a monogenic immunometabolic disorder that causes syndromic congenital neutropenia. Patients display heterogeneous extra-hematological manifestations, contributing to delayed diagnosis. Here, we investigated the origin and functional consequence of the c.

The Spiritual Dimension of Parents' Experiences Caring for a Seriously Ill Child: An Interview Study.

Background: Parents of children with life-threatening conditions may have to balance their personal, family, and professional lives in the anticipation of child loss and the demands of providing medical care for their child. The challenges these parents are confronted with may lead to specific care needs. In this paper we explore the spiritual dimension of caring for a child with a life-threatening condition from the parents perspective.

Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.

Background: G6PC3 deficiency is a rare genetic disorder that causes syndromic congenital neutropenia. It is driven by the intracellular accumulation of a metabolite named 1,5-anhydroglucitol-6-phosphate (1,5-AG6P) that inhibits glycolysis. Patients display heterogeneous extra-hematological manifestations, contributing to delayed diagnosis.

The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson's disease comorbidity.

Background: Inflammatory bowel disease (IBD) and Parkinson's disease (PD) are chronic disorders that have been suggested to share common pathophysiological processes. LRRK2 has been implicated as playing a role in both diseases. Exploring the genetic basis of the IBD-PD comorbidity through studying high-impact rare genetic variants can facilitate the identification of the novel shared genetic factors underlying this comorbidity.

Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set.

Gain-of-function (GOF) variants give rise to increased/novel protein functions whereas loss-of-function (LOF) variants lead to diminished protein function. Experimental approaches for identifying GOF and LOF are generally slow and costly, whilst available computational methods have not been optimized to discriminate between GOF and LOF variants. We have developed LoGoFunc, a machine learning method for predicting pathogenic GOF, pathogenic LOF, and neutral genetic variants, trained on a broad range of gene-, protein-, and variant-level features describing diverse biological characteristics.

Barriers to the spiritual care of parents taking care of their child with a life-limiting condition at home.

Unlabelled: The changes that parents face when caring for a child with a life-limiting condition at home can affect them on a spiritual level. Yet, indications remain that parents do not feel supported when dealing with spiritual issues related to caring for a severely ill child. This paper explores, from the perspectives of bereaved parents, chaplains, grief counselors, and primary health care providers, the barriers to supporting the spiritual needs of parents.

Effective communication in palliative care from the perspectives of patients and relatives: A systematic review.

Objectives: In palliative care, effective communication is essential to adequately meet the needs and preferences of patients and their relatives. Effective communication includes exchanging information, facilitates shared decision-making, and promotes an empathic care relationship. We explored the perspectives of patients with an advanced illness and their relatives on effective communication with health-care professionals.

Recruitment and retention challenges and strategies in randomized controlled trials of psychosocial interventions for children with cancer and their parents: a collective case study.

In pediatric oncology there are few examples of successful recruitment and retention strategies in psychosocial care research. This study aims to summarize experiences, challenges, and strategies for conducting randomized controlled trials (RCTs) of psychosocial intervention studies among children with cancer and their parent(s). We conducted a collective case study.

Advance Care Planning in the Netherlands.

The Dutch health care system fosters a strong public health sector offering accessible generalist care including generalist palliative care. General practitioners are well positioned to conduct ACP, for example, to continue or initiate conversations after hospitalization. However, research shows that ACP conversations are often ad hoc and in frail patients, ACP is often only initiated when admitted to a nursing home by elderly care physicians who are on the staff.