-
Neurologia Mar 2024Charcot-Marie-Tooth disease (CMT) is classified according to neurophysiological and histological findings, the inheritance pattern, and the underlying genetic defect....
INTRODUCTION
Charcot-Marie-Tooth disease (CMT) is classified according to neurophysiological and histological findings, the inheritance pattern, and the underlying genetic defect. The objective of these guidelines is to offer recommendations for the diagnosis, prognosis, follow-up, and treatment of this disease in Spain.
MATERIAL AND METHODS
These consensus guidelines were developed through collaboration by a multidisciplinary panel encompassing a broad group of experts on the subject, including neurologists, paediatric neurologists, geneticists, physiatrists, and orthopaedic surgeons.
RECOMMENDATIONS
The diagnosis of CMT is clinical, with patients usually presenting a common or classical phenotype. Clinical assessment should be followed by an appropriate neurophysiological study; specific recommendations are established for the parameters that should be included. Genetic diagnosis should be approached sequentially; once PMP22 duplication has been ruled out, if appropriate, a next-generation sequencing study should be considered, taking into account the limitations of the available techniques. To date, no pharmacological disease-modifying treatment is available, but symptomatic management, guided by a multidiciplinary team, is important, as is proper rehabilitation and orthopaedic management. The latter should be initiated early to identify and improve the patient's functional deficits, and should include individualised exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transfer. The follow-up of patients with CMT is exclusively clinical, and ancillary testing is not necessary in routine clinical practice.
PubMed: 38431252
DOI: 10.1016/j.nrleng.2024.02.008 -
Frontiers in Surgery 2024Spine surgery is a prevalently performed procedure. Some authors have proposed an age-related surge in surgical and general complications. During spine surgery, patients...
Spine surgery is a prevalently performed procedure. Some authors have proposed an age-related surge in surgical and general complications. During spine surgery, patients are placed in positions that are not physiologic, would not be tolerated for prolonged periods by the patient in the awake state, and may lead to complications. Understanding these uncommon complications and their etiology is pivotal to prevention and necessary. The patient is a 76-year-old woman referred to the outpatient department of neurosurgery in February 2022 by her physiatrist with a chief complaint of chronic low back pain and numbness over the left leg. Lumbar spine magnetic resonance imaging revealed degenerative disc disease and posterior disc bulging at the levels of L2/3∼L5/S1 with compression of the thecal sac. After receiving anti-inflammatory medication, nerve block and caudal block, her symptoms persisted. She was referred to a neurosurgeon for surgical intervention. We diagnosed spinal stenosis with left L3 and L4 radiculopathy, and elective decompression surgery was scheduled a few days later. We performed discectomies at L2/3 and L3/4 and left unilateral laminectomy at L2 and L3 for bilateral decompression. Following an uneventful surgery, the patient was extubated, and her left leg pain improved, but pain over the right outer calf with drop foot developed. A second lumbar MRI the next day revealed no evidence of recurrent disc herniation or epidural hematoma. Then, she received nerve conduction velocity and needle electromyogram on postoperative day 2, and the studies indicated right common peroneal nerve entrapment neuropathy. After medication with steroids and foot splint use, right leg pain improved. However, weak dorsiflexion of the right ankle persisted. We referred this patient to a physiatrist and OPD for follow-up after discharge. Perioperative peripheral nerve injury (PPNI) is most commonly caused by peripheral nerve ischemia due to abnormal nerve lengthening or pressure and can be exacerbated by systemic hypotension. Any diseases affecting microvasculature and anatomical differences may contribute to nerve injury or render patients more susceptible to nerve injury. Prevention, early detection and intervention are paramount to reducing PPNI and associated adverse outcomes. The use of intraoperative neuromonitoring theoretically allows the surgical team to detect and intervene in impending PPNI during surgery.
PubMed: 38410409
DOI: 10.3389/fsurg.2024.1329860 -
Journal of Pediatric Rehabilitation... 2024Conjoined twins are identical twins joined in utero and are a rare phenomenon. This report discusses a case of female thoraco-omphalo-ischiopagus tripus conjoined twins....
Conjoined twins are identical twins joined in utero and are a rare phenomenon. This report discusses a case of female thoraco-omphalo-ischiopagus tripus conjoined twins. The twins were separated at age two, and once medically stable, spent one month in inpatient rehabilitation to improve their sitting balance and gross motor skills. This was followed by outpatient physical therapy. The twins initially had customized ZipZac seats, which they were able to wheel independently. After six months of therapy, the girls began walking with posterior walkers and prostheses. The hemipelvectomy prosthesis included a customized thoracolumbosacral orthosis component and was directly attached to a non-articulated pylon. A manual-locking hip joint was added to accommodate sitting. An articulated ankle-foot orthosis was used for the intact leg. Care of formerly conjoined twins requires comprehensive care from a multidisciplinary team involving, but not limited to, a physiatrist, orthopaedic surgeon, physical therapist, and orthotist/prosthetist. Complex congenital limb deficiencies are often a major undertaking for the rehabilitation team as continuous treatment and management are needed throughout the patient's lifetime due to growth, development, and evolving physical demands. Anatomic variations must be examined on a case-by-case basis but often include limb deficiencies, orthopedic abnormalities, and organ comorbidities.
Topics: Humans; Twins, Conjoined; Female; Treatment Outcome; Physical Therapy Modalities; Child, Preschool
PubMed: 38393928
DOI: 10.3233/PRM-220121 -
American Journal of Physical Medicine &... Jun 2024This Joel A. DeLisa Lecture on endovascular brain-computer interfaces was presented by Dr Thomas Oxley on February 23, 2023, at the Association of Academic Physiatrists...
This Joel A. DeLisa Lecture on endovascular brain-computer interfaces was presented by Dr Thomas Oxley on February 23, 2023, at the Association of Academic Physiatrists Annual Scientific Meeting. The lecture described how brain-computer interfaces replace lost physiological function to enable direct communication between the brain and external digital devices, such as computers, smartphones, and robotic limbs. Specifically, the potential of a novel endovascular brain-computer interface technology was discussed. The brain-computer interface uses a stent-electrode array delivered via the jugular vein and is permanently implanted in a vein adjacent to the motor cortex. In a first-in-human clinical trial, participants with upper limb paralysis who received the endovascular brain-computer interface could use the system independently and at home to operate laptop computers for various instrumental activities of daily living. A Food and Drug Administration-approved trial of the endovascular brain-computer interface in the United States is in progress. Future development of the system will provide recipients with continuous autonomy through digital access with minimal caregiver assistance. Physiatrists and occupational therapists will have a vital role in helping people with paralysis achieve the potential of implantable brain-computer interfaces.
Topics: Humans; Brain-Computer Interfaces; Endovascular Procedures; Personal Autonomy; Activities of Daily Living; Paralysis
PubMed: 38377064
DOI: 10.1097/PHM.0000000000002463 -
American Journal of Physical Medicine &... Mar 2024Primary and metastatic spine tumors can lead to devastating complications, but timely and careful management of these patients can improve outcomes. A multidisciplinary...
Primary and metastatic spine tumors can lead to devastating complications, but timely and careful management of these patients can improve outcomes. A multidisciplinary and structured approach is the most effective way to evaluate patients with spine disease and mitigate the risk of complications. The neurologic, oncologic, mechanical and systemic disease framework gives comprehensive guidance to providers regarding appropriate management. Physiatrists play a critical role in these patients' initial evaluation and continued management throughout cancer treatment. Patients with spinal cord involvement have extensive needs, requiring an individualized management approach. Even though patients with nontraumatic spinal cord injury benefit from rehabilitation efforts and have improved outcomes, they are not routinely admitted to inpatient rehabilitation units or referred to outpatient cancer rehabilitation. Ongoing efforts are needed to promote rehabilitation medicine involvement in improving functional outcomes and quality of life for patients with spine involvement.
Topics: Humans; Quality of Life; Spinal Cord Injuries; Hospitalization; Physical and Rehabilitation Medicine; Neoplasms
PubMed: 38364027
DOI: 10.1097/PHM.0000000000002396 -
American Journal of Physical Medicine &... Mar 2024Cancer patients are recommended to exercise at all stages of disease given the multiple health and functional benefits of physical activity. Certain safety precautions,...
Cancer patients are recommended to exercise at all stages of disease given the multiple health and functional benefits of physical activity. Certain safety precautions, including a preparticipation medical evaluation and periodic re-evaluations, should be undertaken before creating an exercise program based on individual cancer and treatment history. When designing an exercise program, physiatrists should use similar principles of frequency, intensity, timing, and type for cancer patients that are used for noncancer patients. Special attention to risks of cardiac and pulmonary disease along with risks of sarcopenia, thrombocytopenia, anemia, neutropenia, fracture risk, neurotoxicity, lymphedema, and metastases should be made. This article will outline these specific risks and necessary modifications to the exercise prescription for cancer patients that can be used to enable safe participation in recommended exercise.
Topics: Humans; Exercise Therapy; Exercise; Neoplasms; Risk Assessment; Prescriptions
PubMed: 38364025
DOI: 10.1097/PHM.0000000000002381 -
American Journal of Physical Medicine &... Jun 2024Residency recruitment practices have undergone significant changes in the last several years. Interviews are now conducted fully virtually leading to both positive and...
Residency recruitment practices have undergone significant changes in the last several years. Interviews are now conducted fully virtually leading to both positive and negative downstream effects, including decreased cost to applicants and programs, decreased time away from clinical activities, flexibility in scheduling, and increased applications for applicants and program directors. In response to these changes, the Association of Academic Physiatrists Residency and Fellowship Program Directors Council convened a workgroup consisting of program directors, program coordinators, residents, and medical students who reviewed the available literature to provide an evidence-based set of best practices for program leaders and applicants. Available data from the Association of American Medical Colleges and its relevance to future recruitment cycles are also discussed.
Topics: Humans; Internship and Residency; Personnel Selection; Fellowships and Scholarships; United States; Physical and Rehabilitation Medicine; Education, Medical, Graduate
PubMed: 38363773
DOI: 10.1097/PHM.0000000000002447 -
American Journal of Physical Medicine &... Feb 2024The current extent and quality of evidence based practice (EBP) training for physiatrists is unclear at this time. Training of EBP is also available to residents in...
OBJECTIVE
The current extent and quality of evidence based practice (EBP) training for physiatrists is unclear at this time. Training of EBP is also available to residents in Canada. The extent, quality and impact of the training was explored.
DESIGN
Cohort study Results: about half of the Canadian programs reported a formal EBP curriculum. The most frequently reported method of providing EBP education were resident participation in journal club.
CONCLUSIONS
Despite the increasing integration of EBP into residency program education, there remains a critical lack of knowledge and skills for implementation of EBP into clinical practice among Canadian PM&R residency programs.
PubMed: 38363717
DOI: 10.1097/PHM.0000000000002455 -
Physical & Occupational Therapy in... Feb 2024In addition to the popular search engines on the Internet, ChatGPT may provide accurate and reliable health information. The aim of this study was to examine whether...
AIMS
In addition to the popular search engines on the Internet, ChatGPT may provide accurate and reliable health information. The aim of this study was to examine whether ChatGPT's responses to frequently asked questions concerning cerebral palsy (CP) by families were reliable and useful.
METHODS
Google trends were used to find the most frequently searched keywords for CP. Five independent physiatrists assessed ChatGPT responses to 10 questions. Seven-point Likert-type scales were used to rate information reliability and usefulness based on whether the answer can be validated and is understandable.
RESULTS
The median ratings for reliability of information for each question varied from 2 (very unsafe) to 5 (relatively very reliable). The median rating was 4 (reliable) for four questions. The median ratings for usefulness of information varied from 2 (very little useful) to 5 (moderately useful). The median rating was 4 (partly useful) for seven questions.
CONCLUSION
Although ChatGPT appears promising as an additional tool for informing family members of individuals with CP about medical information, it should be emphasized that both consumers and health care providers should be aware of the limitations of artificial intelligence-generated information.
PubMed: 38361368
DOI: 10.1080/01942638.2024.2316178 -
Cureus Jan 2024In this article, we present a case study involving a patient with spinal cord injury (SCI), resulting in tetraplegia and subsequent loss of upper limb function. The...
In this article, we present a case study involving a patient with spinal cord injury (SCI), resulting in tetraplegia and subsequent loss of upper limb function. The subject of our study was a 23-year-old woman with incomplete tetraplegia stemming from a cervical spinal cord injury. Our primary objective was to enhance hand function and grip strength. Throughout the intervention, we observed substantial enhancements in hand function, range of motion, and muscle power. Notably, the patient exhibited a favorable response to the therapy, demonstrating commendable adherence and active participation. To create an optimal training environment tailored to the patient's needs, we employed the Unity 3D game engine in conjunction with a Leap Motion controller sensor. This combination facilitated the development of a semi-immersive virtual training environment. The utilization of this technology aimed to simulate a conducive training atmosphere for the rehabilitation of hand function. Based on our study outcomes, we advocate for the incorporation of leap motion-related exercises in the treatment of hand functional loss and weakness. The promising results observed in this case study prompt the recommendation for further large-scale studies to validate and substantiate our findings. Such investigations would contribute to the establishment of evidence-based practices and enhance the understanding of the efficacy of Leap Motion technology in addressing upper limb impairments associated with spinal cord injuries.
PubMed: 38352112
DOI: 10.7759/cureus.52261