Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases

Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: “Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature”. Despite significant advances in genomic sequencing technologies, more than half of the patients with suspected Mendelian disorders remain undiagnosed. In response, IRDiRC proposes the establishment of “a globally coordinated diagnostic and research pipeline”. To help facilitate this, IRDiRC formed the Task Force on Integrating New Technologies for Rare Disease Diagnosis. This multi-stakeholder Task Force aims to provide an overview of the current state of innovative diagnostic technologies for clinicians and researchers, focusing on the patient’s diagnostic journey. Herein, we provide an overview of a broad spectrum of emerging diagnostic technologies involving genomics, epigenomics and multi-omics, functional testing and model systems, data sharing, bioinformatics, and Artificial Intelligence (AI), highlighting their advantages, limitations, and the current state of clinical adaption. We provide expert recommendations outlining the stepwise application of these innovative technologies in the diagnostic pathways while considering global differences in accessibility. The importance of FAIR (Findability, Accessibility, Interoperability, and Reusability) and CARE (Collective benefit, Authority to control, Responsibility, and Ethics) data management is emphasized, along with the need for enhanced and continuing education in medical genomics. We provide a perspective on future technological developments in genome diagnostics and their integration into clinical practice. Lastly, we summarize the challenges related to genomic diversity and accessibility, highlighting the significance of innovative diagnostic technologies, global collaboration, and equitable access to diagnosis and treatment for people living with rare disease

Evaluating Hand Function in Clients with Trigger Finger

Background. Trigger finger (TF) is a common hand pathology frequently encountered in hand clinics. Occupational therapists predominantly assess TF symptoms as opposed to using standardized hand functioning assessments. The purpose of this study was to assess the construct validity of dexterity and grip strength assessments for clients with TF. Method. Sixty-three participants with TF and 66 healthy controls were administered the Functional Dexterity Test (FDT), Purdue Pegboard Test (PPT), and Jamar® Hydraulic Hand Dynamometer (JD) and completed the Disabilities of Arm Shoulder and Hand questionnaire (DASH). TF symptoms were graded using the Quinnell classification. Results. Statistically significant differences were found between the groups in dexterity and grip strength. A statistically significant difference between the three TF grades was found on the PPT. All three test scores were moderately correlated with the DASH scores. Conclusion. This study provides innovative evidence for the validity of common hand function assessments for individuals with TF and recommends incorporating these tools in clinical practice. Further research is needed with larger samples and better representation of each TF clinical grade

Research activity among European hand surgery residents

During residency, most hand surgeons may be encouraged to participate in clinical or basic science research projects. The research committee of the Federation of European Societies for Surgery of the Hand (FESSH) is dedicated to support research activities, especially of young surgeons, including residents. In 2018, we initiated a survey among European hand surgeons to assess hurdles that limit research activity during hand surgery training and to explore if FESSH can take a more active role in promoting research activities

The epidemiology of wrist and hand injury in two hospitals in Jerusalem: substantial differences between population subgroups

Abstract Background Wrist and hand injuries are common and constitute a major economic burden. General injury prevention programs have failed to demonstrate a decrease in injury rates. We hypothesized that there are differences in injury patterns in culturally diverse subpopulations of a metropolitan area treated within the same medical system, which may partly explain the difficulties associated with injury prevention. Methods We conducted a survey of patients admitted to emergency departments of two hospitals in Jerusalem for wrist and hand injuries during a 3 month period. Patients were asked to complete a questionnaire regarding demographic data, injury type and mechanism. Injury type and mechanism were then compared for age, gender, level of education and degree of religiosity. Results The questionnaire was completed by 799 patients (response rate 62%; 75% male; average age 27). Thirty-one percent reported they were injured at work, 33% at home and 36% during leisure activities. Data analysis showed that several subpopulations were found to be at risk as compared to their corresponding groups and relative proportion in the overall population of the city. These included contusions after falls in non-ultra-Orthodox Jewish women aged 65 years and over, crush injuries in ultra-Orthodox Jews under the age of 10 (53% vs. 14% for non ultra-Orthodox Jews, respectively) and Muslim teens. Muslims were injured more, especially at work, in comparison to their relative proportion in the population as a whole. Conclusion Different subpopulations at risk and different injury patterns of wrist and hand injuries were found in this culturally heterogeneous population. Awareness of these differences may be the first step when designing specific injury prevention programs in a culturally diverse population. A combined effort of community leaders and government agencies is needed to deal with the specific populations at risk, although legislation may be needed to limit some of the risks such as teens and specific work related hazards and exposures

Injury

INTRODUCTION AND DEFINITIONS: Civilian gunshot violence is a growing public health issue on a global scale. Treatment of patients with gunshot injuries is based on algorithms derived from military studies, but the distinct differences in weaponry, energy of injury, timing and type of care, and environment translate to a gap in knowledge. With a focus on non-accidental gunshot trauma and excluding suicide etiologies, we propose to build a collaborative research group to address important questions focused on best practices for gunshot injury patients. PRE-HOSPITAL CARE: There are important differences in the care of gunshot victims across the globe; some countries provide advanced interventions in the field and others deliver basic support until transport to a higher level of care in hospital. Some simple interventions include the use of extremity tourniquets and intravenous fluid support; others to consider are tranexamic acid, whole blood, and hemostatic agents. ACUTE TREATMENT: Control of exsanguinating hemorrhage is a key priority for gunshot injuries. Military doctrine has evolved to prioritize exsanguination over airway or breathing as the critical first step. The X-ABC protocol focuses on exsanguinating hemorrhage, then standard evaluation of Airway, Breathing and Circulation (ABCs) to enhance survival in trauma patients. The timing of bony stabilization, in terms of damage-control vs definitive care, needs further study in this population, as does use of antibiotics for bony extremity injuries. Finally, recognition of the mental health effects of gun trauma, including post-traumatic stress disorder (PTSD), anxiety disorders, substance abuse and depression is important in advocating for prevention such as implementation of social support and specific interventions. DEFINITIVE CARE: The need for abdominal closure after exploratory laparotomy, definitive fracture treatment, and other treatment all contribute to length of stay for gunshot injured patients. Optimizing stabilization allows earlier mobilization and decreases nosocomial complications. Nerve injuries are often a source of long-term disability and their evaluation and treatment require further investigation. RESOURCES AND ETHICS: There are growing numbers of mass-casualty gunshot events, which require consideration of how to organize and use resources for treatment, including staff, operating room access, blood products, and order of treatment. Drills and planning for incident command hierarchy and communication are key to optimizing resource utilization. The ethics of choosing treatment priorities and resources are important considerations as well