Search Results (8)

Background: Injury of the spinal cord causes motor and sensory dysfunction as well as pathological reflexes, leading to paraplegia or tetraplegia. The sequelae of traumatic spinal cord injury (SCI) are a significant burden and impact on healthcare systems. Despite constant progress in medicine, traumatic SCI still remains irreversible. To date, no satisfying treatment that can enable neuronal regeneration and recovery of function at the damaged level has been found. Hundreds of experiments have been conducted on various possibilities of influencing spinal regeneration; some of them have yielded promising results, but unfortunately, the successes obtained in experimental animals have not translated into humans. Methods: This narrative review article presents the application of extracorporeal shock wave therapy (eSWT) in patients with SCI. The article has been divided into parts: 1) use of extracorporeal shock wave therapy for regeneration of the spinal cord after traumatic spinal cord injury; 2) application of extracorporeal shock wave therapy in spasticity after spinal cord injury. In both cases, the hypotheses of possible mechanisms of action will be described. Results and conclusions: A small number of clinical trials have demonstrated the potential of eSWT to influence the regeneration of the spine, as an innovative, safe, and cost-effective treatment option for patients with SCI. Some reports have shown that eSWT can improve spasticity, walking ability, urological function, quality of life, and independence in daily life. Full article

Klippel–Feil syndrome (KFS) is characterized by the congenital fusion of the cervical vertebrae and is sometimes accompanied by anomalies in the craniocervical junction. In basilar invagination (BI), which is a dislocation of the dens in an upper direction, compression of the brainstem and cervical cord results in neurological defects and surgery is required. A 16-year-old boy diagnosed with KFS and severe BI presented with spastic tetraplegia, opisthotonus and dyspnea. CT scans showed basilar impression, occipitalization of C1 and fusion of C2/C3. MRI showed ventral compression of the medullocervical junction. Posterior occipitocervical reduction and fusion along with decompression were performed. Paralysis gradually improved postoperatively over 3 weeks. However, severe spasticity and opisthotonus persisted and intrathecal baclofen (ITB) therapy was initiated. Following this, opisthotonus disappeared and spasticity of the extremities improved. Rehabilitation therapy continued by controlling the dose of ITB. Five years after the surgery, self-propelled wheelchair driving was achieved and activities of daily life improved. The treatment strategy for patients with BI and congenital anomalies remains controversial. Posterior reduction and internal fixation using instrumentation were effective techniques in this case. Spasticity control achieved through a combination of surgery and ITB treatment enabled the amelioration of therapeutic efficacy of rehabilitation and the improvement of ADL. Full article

Sjögren–Larsson syndrome (SLS) is a rare inherited neurocutaneous disease characterized by ichthyosis, spastic diplegia or tetraplegia, intellectual disability and a distinctive retinopathy. SLS is caused by bi-allelic mutations in ALDH3A2, which codes for fatty aldehyde dehydrogenase (FALDH) and results in abnormal lipid metabolism. The biochemical abnormalities in SLS are not completely known, and the pathogenic mechanisms leading to symptoms are still unclear. To search for pathways that are perturbed in SLS, we performed untargeted metabolomic screening in 20 SLS subjects along with age- and sex-matched controls. Of 823 identified metabolites in plasma, 121 (14.7%) quantitatively differed in the overall SLS cohort from controls; 77 metabolites were decreased and 44 increased. Pathway analysis pointed to disrupted metabolism of sphingolipids, sterols, bile acids, glycogen, purines and certain amino acids such as tryptophan, aspartate and phenylalanine. Random forest analysis identified a unique metabolomic profile that had a predictive accuracy of 100% for discriminating SLS from controls. These results provide new insight into the abnormal biochemical pathways that likely contribute to disease in SLS and may constitute a biomarker panel for diagnosis and future therapeutic studies. Full article

Electrical stimulation exercise has become an important modality to help improve the mobility and health of individuals with spinal cord injury (SCI). Electrical stimulation is used to stimulate peripheral nerves in the extremities to assist with muscle strengthening or functional activities such as cycling, rowing, and walking. Electrical stimulation of the peripheral nerves in the upper extremities has become a valuable tool for predicting the risk of hand deformities and rehabilitating functional grasping activities. The purpose of this paper is to provide healthcare providers perspective regarding the many rehabilitation uses of electrical stimulation in diagnosing and treating individuals with SCI. Electrical stimulation has been shown to improve functional mobility and overall health, decrease spasticity, decrease the risk of cardiometabolic conditions associated with inactivity, and assist in the diagnosis/prognosis of hand deformities in those with tetraplegia. Studies involving non-invasive stimulation of the spinal nerves via external electrodes aligned with the spinal cord and more invasive stimulation of electrodes implanted in the epidural lining of the spinal cord have demonstrated improvements in the ability to stand and enhanced the stepping pattern during ambulation. Evidence is also available to educate healthcare professionals in using functional electrical stimulation to reduce muscle spasticity and to recognize limitations and barriers to exercise compliance in those with SCI. Further investigation is required to optimize the dose-response relationship between electrical stimulation activities and the mobility and healthcare goals of those with SCI and their healthcare providers. Full article

Mitochondrial tRNA^Ser(UCN) is considered a hot-spot for non-syndromic and aminoglycoside-induced hearing loss. However, many patients have been described with more extensive neurological diseases, mainly including epilepsy, myoclonus, ataxia, and myopathy. We describe a novel homoplasmic m.7484A>G mutation in the tRNA^Ser(UCN) gene affecting the third base of the anticodon triplet in a girl with profound intellectual disability, spastic tetraplegia, sensorineural hearing loss, a clinical history of epilepsia partialis continua and vomiting, typical of MELAS syndrome, leading to a myoclonic epilepticus status, and myopathy with severe COX deficiency at muscle biopsy. The mutation was also found in the homoplasmic condition in the mother who presented with mild cognitive deficit, cerebellar ataxia, myoclonic epilepsy, sensorineural hearing loss and myopathy with COX deficient ragged-red fibers consistent with MERRF syndrome. This is the first anticodon mutation in the tRNA^Ser(UCN) and the second homoplasmic mutation in the anticodon triplet reported to date. Full article

Return to work is a challenging aspect of community integration for individuals with disabilities. The reintegration of individuals with spinal cord injury (SCI) is multifactorial; hence, regional challenges need to be investigated in the context of their clinical attributes and perceptions. A total of 121 male participants above 18 years of age with diagnosis of SCI and living at home were included in this cross-sectional survey. The study was conducted at a tertiary care rehabilitation facility in Saudi Arabia. The most common reported clinical barriers to employment were mobility, bladder incontinence, spasticity, musculoskeletal pain, and neuropathic pain. Bladder incontinence and musculoskeletal pain were the most common perceived clinical barriers for individuals with paraplegia and tetraplegia, respectively. A significant difference was observed for bowel incontinence as a reported barrier (p = 0.024) among adults less than thirty years of age in comparison with those older than thirty years. Spasticity as a barrier was reported more among patients who were older than thirty years (54.0%) compared to those younger than thirty years of age (37.9%) (p = 0.077). Twenty-two (23.7%) participants with paraplegia reported transfers as a perceived barrier to employment, which was significant (p = 0.014), and it was also reported as a significant barrier (p = 0.001) in individuals with tetraplegia (56%). This study shows that clinical conditions associated with SCI are considered potential barriers to employment by individuals with SCI. In terms of priority, the perceived barriers between individuals with tetraplegia and paraplegia were mostly different. This shows the need to consider relevant secondary health care conditions in goal setting while planning for employment in individuals with SCI. Full article

A study of the literature shows the lack of data on a comprehensive analysis of eating disorders in children with neurodysfunction, which constitute a clinical subgroup with an increased risk of abnormalities in this area. Therefore, the aim of this study was to determine the relationship between the coexistence of nutritional disorders and diseases or syndromes associated with neurodysfunction based on data collected during hospitalization at a rehabilitation center for children and adolescents. A retrospective analysis was carried out in a group of 327 children and adolescents aged 4–18 years. The study group covered various types of diseases or syndromes involving damage to the central nervous system. A retrospective analysis of baseline data (age, sex, main and additional diagnosis and Body Mass Index—BMI) was performed. Two assessment criteria of nutritional status were taken into account (z-score BMI and other previously published normative values). In the study group, malnutrition was found more frequently (18.0% of the respondents) than obesity (11.3% of the subjects). Hypothyroidism coexisting with malnutrition was identified in the study group (N% = 43.8%, p = 0.011) and malnutrition with tetraplegia in the subgroup of spastic cerebral palsy (N% = 34.2 %, p = 0.029). Full article

The aim of this study is to describe the results obtained after growth hormone (GH) treatment and neurorehabilitation in a young man that suffered a very grave traumatic brain injury (TBI) after a plane crash. Methods: Fifteen months after the accident, the patient was treated with GH, 1 mg/day, at three-month intervals, followed by one-month resting, together with daily neurorehabilitation. Blood analysis at admission showed that no pituitary deficits existed. At admission, the patient presented: spastic tetraplegia, dysarthria, dysphagia, very severe cognitive deficits and joint deformities. Computerized tomography scanners (CT-Scans) revealed the practical loss of the right brain hemisphere and important injuries in the left one. Clinical and blood analysis assessments were performed every three months for three years. Feet surgery was needed because of irreducible equinovarus. Results: Clinical and kinesitherapy assessments revealed a prompt improvement in cognitive functions, dysarthria and dysphagia disappeared and three years later the patient was able to live a practically normal life, walking alone and coming back to his studies. No adverse effects were observed during and after GH administration. Conclusions: These results, together with previous results from our group, indicate that GH treatment is safe and effective for helping neurorehabilitation in TBI patients, once the acute phase is resolved, regardless of whether or not they have GH-deficiency (GHD). Full article