SciCombinator

Discover the most talked about and latest scientific content & concepts.

Concept: Diseases involving the fasciae

157

Generalized joint hypermobility (GJH) is highly prevalent among patients diagnosed with chronic pain. When GJH is accompanied by pain in ≥4 joints over a period ≥3 months in the absence of other conditions that cause chronic pain, the hypermobility syndrome (HMS) may be diagnosed. In addition, GJH is also a clinical sign that is frequently present in hereditary diseases of the connective tissue, such as the Marfan syndrome, osteogenesis imperfecta, and the Ehlers-Danlos syndrome. However, within the Ehlers-Danlos spectrum, a similar subcategory of patients having similar clinical features as HMS but lacking a specific genetic profile was identified: Ehlers-Danlos syndrome hypermobility type (EDS-HT). Researchers and clinicians have struggled for decades with the highly diverse clinical presentation within the HMS and EDS-HT phenotypes (Challenge 1) and the lack of understanding of the pathological mechanisms that underlie the development of pain and its persistence (Challenge 2). In addition, within the HMS/EDS-HT phenotype, there is a high prevalence of psychosocial factors, which again presents a difficult issue that needs to be addressed (Challenge 3). Despite recent scientific advances, many obstacles for clinical care and research still remain. To gain further insight into the phenotype of HMS/EDS-HT and its mechanisms, clearer descriptions of these populations should be made available. Future research and clinical care should revise and create consensus on the diagnostic criteria for HMS/EDS-HT (Solution 1), account for clinical heterogeneity by the classification of subtypes within the HMS/EDS-HT spectrum (Solution 2), and create a clinical core set (Solution 3).

Concepts: Collagen, Syndromes, Marfan syndrome, Genetic disorders, Connective tissue, Ehlers-Danlos syndrome, Hypermobility, Diseases involving the fasciae

153

A patient with a known biopsy of polyarteritis nodosa diagnosis presented with cyclic fevers, acute kidney injury, and progression of rash from macular to pustular, worsening despite being on antibiotics, without evidence of infection on multiple cultures. The patient had a pathological diagnosis from a skin biopsy of acute generalized exanthematous pustulosis syndrome, with a total resolution of rash, fevers, and acute kidney injury on treatment with pulse steroids.

Concepts: Inflammation, Biopsy, Pathology, Rheumatology, Vasculitis, Acute kidney injury, Polyarteritis nodosa, Diseases involving the fasciae

34

Frozen shoulder is a poorly understood condition that typically involves substantial pain, movement restriction, and considerable morbidity. Although function improves overtime, full and pain free range, may not be restored in everyone. Frozen shoulder is also known as adhesive capsulitis, however the evidence for capsular adhesions is refuted and arguably, this term should be abandoned. The aim of this Masterclass is to synthesise evidence to provide a framework for assessment and management for Frozen Shoulder. Although used in the treatment of this condition, manipulation under anaesthetic has been associated with joint damage and may be no more effective than physiotherapy. Capsular release is another surgical procedure that is supported by expert opinion and published case series, but currently high quality research is not available. Recommendations that supervised neglect is preferable to physiotherapy have been based on a quasi-experimental study associated with a high risk of bias. Physiotherapists in the United Kingdom have developed dedicated care pathways that provide; assessment, referral for imaging, education, health screening, ultrasound guided corticosteroid and hydro-distension injections, embedded within physiotherapy rehabilitation. The entire pathway is provided by physiotherapists and evidence exists to support each stage of the pathway. Substantial on-going research is required to better understand; epidemiology, patho-aetiology, assessment, best management, health economics, patient satisfaction and if possible prevention.

Concepts: United Kingdom, Shoulder, Joint manipulation, Adhesive capsulitis of shoulder, Hydrodilatation, Diseases involving the fasciae

26

Systemic vasculitides are great masqueraders and at times their presenting manifestations can be very different from the usual recognized patterns. Such uncommon presentations of granulomatosis with polyangiitis (Wegener’s granulomatosis), classical polyarteritis nodosa and unclassifiable vasculitides are described here with the relevant review of literature.

Concepts: Rheumatology, Vasculitis, Wegener's granulomatosis, Arthritis, Polyarteritis nodosa, Vascular-related cutaneous conditions, Microscopic polyangiitis, Diseases involving the fasciae

9

3

Chronic or recurrent musculoskeletal pain is a common complaint in children. Among the most common causes for this problem are different conditions associated with hypermobility. Pediatricians and allied professionals should be well aware of the characteristics of the different syndromes associated with hypermobility and facilitate early recognition and appropriate management. In this review we provide information on Benign Joint Hypermobility Syndrome, Ehlers-Danlos Syndrome, Marfan Syndrome, Loeys-Dietz syndrome and Stickler syndrome, and discuss their characteristics and clinical management.

Concepts: Syndromes, Marfan syndrome, Genetic disorders, Ehlers-Danlos syndrome, Hypermobility, Loeys-Dietz syndrome, Flat feet, Diseases involving the fasciae

2

Lowered pressure pain thresholds have been demonstrated in adults with Ehlers-Danlos Hypermobility type(EDS-HT), however it remains unclear if these findings are also present in children. Therefore, the objectives of the study were to: (1)determine if generalized hyperalgesia is present in Hypermobility syndrome (HMS)/EDS-HT children, (2)explore potential differences in pressure pain thresholds between HMS/EDS-HT children and adults, and (3)determine the discriminative value of generalized hyperalgesia.

Concepts: Syndromes, Marfan syndrome, Ehlers-Danlos syndrome, Hypermobility, Contortion, Diseases involving the fasciae

1

To investigate whether orthostatic intolerance (OI) is a significant predictor for fatigue in Ehlers-Danlos Syndrome, hypermobility type (EDS-HT).

Concepts: Syndromes, Marfan syndrome, Postural orthostatic tachycardia syndrome, Ehlers-Danlos syndrome, Hypermobility, Orthostatic intolerance, Contortion, Diseases involving the fasciae

1

This study provides insight into the profile and importance of autonomic symptoms in the hypermobility type (HT) of Ehlers-Danlos syndrome (EDS). The impact of these symptoms is put into perspective by comparing with fibromyalgia (FM) and two other EDS types.

Concepts: Syndromes, Marfan syndrome, Fatigue, Ehlers-Danlos syndrome, Hypermobility, Contortion, Diseases involving the fasciae

0

Congenital diaphragmatic hernia (CDH) remains one of the major challenges in neonatal surgery. Survival rate has increased in the last decades mainly due to perinatal care and surgical technique improvements. Classically, a laparotomy has been performed after cardiovascular and respiratory stabilization. Introduction of thoracoscopy in the repair of CDH brought the known advantages of reduced postoperative pain and better cosmesis. However, its safety and effectiveness have been questioned in the last few years. Although there is lack of high evidence data, it seems consensual that thoracoscopy is associated with: i. longer operative time on account of the learning curve; ii. increased acidosis during surgery whose effects have not been clarified but there is evidence suggesting that neurodevelopment is not affected; iii. reduced morbidity, namely postoperative ileum and adhesions, pain and scar formation; iv. similar mortality rate; v. higher number of recurrences. While the majority of outcomes are comparable between open and thoracoscopic repair, reduced postoperative morbidity and better cosmesis are advantages to be considered. Technique improvements are still required to reduce recurrence rate. Division of the pleura from the peritoneum is a major step of the procedure; suture type and quality must simulate those in the open repair. The authors believe that careful and meticulous execution of the principles of open surgery will improve outcomes regarding recurrence.

Concepts: Better, Improve, Surgery, Hernia, Bowel obstruction, Laparotomy, Congenital diaphragmatic hernia, Diseases involving the fasciae