Treating pain in patients with Ehlers-Danlos syndrome : Multidisciplinary management of a multisystemic disease.

Background: The clinical picture of people with Ehlers-Danlos syndromes (EDS) is complex and involves a variety of potential causes of pain. This poses major challenges to patients and healthcare professionals alike in terms of diagnosis and management of the condition.

Objectives: The aim of the article was to provide an overview of the specific pain management needs of patients with EDS and address their background.

[Short paths to diagnosis with artificial intelligence: systematic literature review on diagnostic decision support systems].

Background: Rare diseases are often recognized late. Their diagnosis is particularly challenging due to the diversity, complexity and heterogeneity of clinical symptoms. Computer-aided diagnostic aids, often referred to as diagnostic decision support systems (DDSS), are promising tools for shortening the time to diagnosis.

Exploring different stakeholders' perspectives on ward rounds in paediatric oncology: a qualitative study.

Rational/aims And Objectives: Ward rounds are a core routine for interprofessional communication and clinical care planning: Health care professionals and patients meet regularly and it encourages patients to actively participate. In paediatric oncology, the long treatment process, the serious diagnosis, and involvement of both patients and their parents in shared-decision-making require specific ward round skills. Despite its high value for patient-centred care, a universal definition of ward round is lacking.

Suggestion of a new standard in measuring the mandible via MRI and an overview of reference values in young women.

Purpose: Adult idiopathic condylar resorption (AICR) mainly affects young women, but generally accepted diagnostic standards are lacking. Patients often need temporomandibular joint (TMJ) surgery, and often jaw anatomy is assessed by CT as well as MRI to observe both bone and soft tissue. This study aims to establish reference values for mandible dimensions in women from MRI only and correlate them to, e.

Cluster-Analytic Identification of Clinically Meaningful Subtypes in MCAS: The Relevance of Heat and Cold.

Background: Mast cell activation syndrome (MCAS) is a clinically heterogeneous disease with allergy-like symptoms and abdominal complaints. Its etiology is only partially understood and it is often overlooked.

Aims: The aim of this study was to identify subgroups of MCAS patients to facilitate diagnosis and allow a personalized therapy.

New discoveries in ER-mitochondria communication.

The study of endoplasmic reticulum (ER)-mitochondria communication is a vast and expanding field with many novel developments in the past few years. In this mini-review, we focus on several recent publications that identify novel functions of tether complexes, in particular autophagy regulation and lipid droplet biogenesis. We review novel findings that shed light on the role of triple contacts between ER and mitochondria with peroxisomes or lipid droplets as the third player.

Health-related quality of life and health literacy in patients with systemic mastocytosis and mast cell activation syndrome.

Background: Systemic mastocytosis is a rare genetic disease characterized by aberrant proliferation and/or activation of mast cells, resulting in multi-organ, allergy-like symptoms. Mast cell activation syndrome (MCAS) is a clinically similar, but more prevalent disease with unclear etiology. In this study, the health-related quality of life (HRQOL) and health literacy of people suffering from SM and MCAS were assessed.

The ER protein Creld regulates ER-mitochondria contact dynamics and respiratory complex 1 activity.

Dynamic contacts are formed between endoplasmic reticulum (ER) and mitochondria that enable the exchange of calcium and phospholipids. Disturbed contacts between ER and mitochondria impair mitochondrial dynamics and are a molecular hallmark of Parkinson's disease, which is also characterized by impaired complex I activity and dopaminergic neuron degeneration. Here, we analyzed the role of cysteine-rich with EGF-like domain (Creld), a poorly characterized risk gene for Parkinson's disease, in the regulation of mitochondrial dynamics and function.

Risk factors for pressure ulcers in adult patients: A meta-analysis on sociodemographic factors and the Braden scale.

Aims And Objectives: Providing the first meta-analysis of risk factors for pressure ulcer development in adult patients.

Background: Pressure ulcers remain a serious health complication for patients and nursing staff. However, there is a lack of statistical evidence for risk factors as previous research did not include any quantitative synthesis.

Risk Factors for Pressure Injuries in Adult Patients: A Narrative Synthesis.

Pressure injuries remain a serious health complication for patients and nursing staff. Evidence from the past decade has not been analysed through narrative synthesis yet. PubMed, Embase, CINAHL Complete, Web of Science, Cochrane Library, and other reviews/sources were screened.

Fatigue in advanced disease associated with palliative care: A systematic review of non-pharmacological treatments.

Background: Fatigue is a common complaint reported by patients with advanced disease, impacting their daily activities and quality of life. The pathophysiology is incompletely understood, and evidence-based treatment approaches are needed.

Aim: This systematic review aims to evaluate the efficacy of non-pharmacological interventions as treatment for fatigue in advanced disease.

Generation of immune cell containing adipose organoids for in vitro analysis of immune metabolism.

Adipose tissue is an organized endocrine organ with important metabolic and immunological functions and immune cell-adipocyte crosstalk is known to drive various disease pathologies. Suitable 3D adipose tissue organoid models often lack resident immune cell populations and therefore require the addition of immune cells isolated from other organs. We have created the first 3D adipose tissue organoid model which could contain and maintain resident immune cell populations of the stromal vascular fraction (SVF) and proved to be effective in studying adipose tissue biology in a convenient manner.

Pain drawings as a diagnostic tool for the differentiation between two pain-associated rare diseases (Ehlers-Danlos-Syndrome, Guillain-Barré-Syndrome).

Background: The diagnosis of rare diseases poses a particular challenge to clinicians. This study analyzes whether patients' pain drawings (PDs) help in the differentiation of two pain-associated rare diseases, Ehlers-Danlos Syndrome (EDS) and Guillain-Barré Syndrome (GBS).

Method: The study was designed as a prospective, observational, single-center study.

Therapeutic options for patients with rare rheumatic diseases: a systematic review and meta-analysis.

Background: Rare diseases (RDs) in rheumatology as a group have a high prevalence, but randomized controlled trials are hampered by their heterogeneity and low individual prevalence. To survey the current evidence of pharmacotherapies for rare rheumatic diseases, we conducted a systematic review and meta-analysis. Randomized controlled trials (RCTs) of RDs in rheumatology for different pharmaco-interventions were included into this meta-analysis if there were two or more trials investigating the same RD and using the same assessment tools or outcome parameters.

Free fatty acid determination as a tool for modeling metabolic diseases in Drosophila.

Free or non-esterified fatty acids are the product of lipolysis of storage fat, i.e. triacylglyceroles.

Peroxisomes in Immune Response and Inflammation.

The immune response is essential to protect organisms from infection and an altered self. An organism's overall metabolic status is now recognized as an important and long-overlooked mediator of immunity and has spurred new explorations of immune-related metabolic abnormalities. Peroxisomes are essential metabolic organelles with a central role in the synthesis and turnover of complex lipids and reactive species.

Dietary rescue of lipotoxicity-induced mitochondrial damage in Peroxin19 mutants.

Mutations in peroxin (PEX) genes lead to loss of peroxisomes, resulting in the formation of peroxisomal biogenesis disorders (PBDs) and early lethality. Studying PBDs and their animal models has greatly contributed to our current knowledge about peroxisomal functions. Very-long-chain fatty acid (VLCFA) accumulation has long been suggested as a major disease-mediating factor, although the exact pathological consequences are unclear.

Ceramide Synthase Schlank Is a Transcriptional Regulator Adapting Gene Expression to Energy Requirements.

Maintenance of metabolic homeostasis requires adaption of gene regulation to the cellular energy state via transcriptional regulators. Here, we identify a role of ceramide synthase (CerS) Schlank, a multiple transmembrane protein containing a catalytic lag1p motif and a homeodomain, which is poorly studied in CerSs, as a transcriptional regulator. ChIP experiments show that it binds promoter regions of lipases lipase3 and magro via its homeodomain.

Unbalanced lipolysis results in lipotoxicity and mitochondrial damage in peroxisome-deficient mutants.

Inherited peroxisomal biogenesis disorders (PBDs) are characterized by the absence of functional peroxisomes. They are caused by mutations of peroxisomal biogenesis factors encoded by genes, and result in childhood lethality. Owing to the many metabolic functions fulfilled by peroxisomes, PBD pathology is complex and incompletely understood.

Characterization of mutants as a model for lysosomal sphingolipid storage diseases.

Sphingolipidoses are inherited diseases belonging to the class of lysosomal storage diseases (LSDs), which are characterized by the accumulation of indigestible material in the lysosome caused by specific defects in the lysosomal degradation machinery. While some LSDs can be efficiently treated by enzyme replacement therapy (ERT), this is not possible if the nervous system is affected due to the presence of the blood-brain barrier. Sphingolipidoses in particular often present as severe, untreatable forms of LSDs with massive sphingolipid and membrane accumulation in lysosomes, neurodegeneration and very short life expectancy.

Antagonistic function of Lmd and Zfh1 fine tunes cell fate decisions in the Twi and Tin positive mesoderm of Drosophila melanogaster.

In this study we show that cell fate decisions in the dorsal and lateral mesoderm of Drosophila melanogaster depend on the antagonistic action of the Gli-like transcription factor Lame duck (Lmd) and the zinc finger homeodomain factor Zfh1. Lmd expression leads to the reduction of Zfh1 positive cell types, thereby restricting the number of Odd-skipped (Odd) positive and Tinman (Tin) positive pericardial cells in the dorsal mesoderm. In more lateral regions, ectopic activation of Zfh1 or loss of Lmd leads to an excess of adult muscle precursor (AMP) like cells.

Hand is a direct target of the forkhead transcription factor Biniou during Drosophila visceral mesoderm differentiation.

Background: The visceral trunk mesoderm in Drosophila melanogaster develops under inductive signals from the ectoderm. This leads to the activation of the key regulators Tinman, Bagpipe and Biniou that are crucial for specification of the circular visceral muscles. How further differentiation is regulated is widely unknown, therefore it seems to be essential to identify downstream target genes of the early key regulators.

Defective decapentaplegic signaling results in heart overgrowth and reduced cardiac output in Drosophila.

During germ-band extension, Decapentaplegic (Dpp) signals from the dorsal ectoderm to maintain Tinman (Tin) expression in the underlying mesoderm. This signal specifies the cardiac field, and homologous genes (BMP2/4 and Nkx2.5) perform this function in mammals.