ABSTRACT
OBJECTIVE: Chiari malformations (CMs) are a group of congenital or acquired disorders characterized by hindbrain overcrowding into an underdeveloped posterior cranial fossa. CM is considered largely sporadic-however, there exists growing evidence of transmissible genetic underpinnings. The purpose of this systematic review of all familial studies of CM was to investigate the existence of an inherited component and provide recommendations to manage and monitor at-risk family members. METHODS: This paper includes the following: 1) a unique case report of dizygotic twins who presented at the Toronto Western Hospital Spinal Cord Clinic with symptomatic CM type 1 (CM-1) and syringomyelia; and 2) a systematic review of familial CM. The EMBASE and MEDLINE databases were searched on June 27, 2023, in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Only articles in the English language concerning the diagnosis of CM in > 1 human family member presented as a case study, case series, or literature review were included. RESULTS: Among the 29 articles included in the final analysis, a total of 34 families with CM were analyzed. An average of 3 cases of CM were found per family among all generations. Eighty-one cases (88%) reported CM-1, whereas the other 11 (12%) cases reported either CM-0, CM-1.5, or tonsillar ectopia. A syrinx was present in 37 (54%) cases, with 14 (38%) of these patients also reporting a skeletal abnormality, the most common comorbidity. Most family members diagnosed with CM were siblings (18; 35%), followed by monozygotic twins/triplets (12; 23%). CONCLUSIONS: Patients most often presented with headaches, sensory disturbances, or generalized symptoms. Overall, there exists mounting evidence for a hereditary component of CM. It is unlikely to be explained by a classic mendelian inheritance pattern, but is rather a polygenic architecture influenced by variable penetrance, cosegregation, and entirely nongenetic factors. For first-degree relatives of those affected by CM, the authors' findings may influence clinicians to conduct closer clinical and radiographic monitoring, promote patient education, and consider earlier genetic testing.
ABSTRACT
OBJECTIVES: Individuals with spinal cord injury deal with multiple health complications that require them to use many medications. The purpose of this paper was to find the most common potentially harmful drug-drug interactions (DDIs) in therapeutic regimens of persons with spinal cord injury, and the risk factors associated with it. We further highlight the relevance of each of the DDIs specific to spinal cord injury population. DESIGN: Observational design and cross-sectional analysis. SETTING: Community; Canada. PARTICIPANTS: Individuals with spinal cord injury (n = 108). MAIN OUTCOME MEASURES/ANALYSIS: The main outcome was the presence of one or more potential DDIs that can lead to an adverse outcome. All the reported drugs were classified as per the World Health Organization's Anatomical Therapeutic Chemical Classification system. Twenty potential DDIs were selected for the analysis based on the most common medications prescribed to people with spinal cord injury and severity of clinical consequences. The medication lists of study participants were analyzed for selected DDIs. RESULTS: Among the 20 potential DDIs analyzed in our sample, the top 3 prevalent DDIs were Opioids + Skeletal Muscle Relaxants, Opioids + Gabapentinoids, and Benzodiazepines + ≥ 2 other central nervous system (CNS)-active drugs. Of the total sample of 108 respondents, 31 participants (29%) were identified with having at least one potential DDI. The risk of having a potential DDI was highly associated with polypharmacy, though no associations were found between the presence of a drug interaction and age, sex, level of injury, time since injury, or cause of injury among the study sample. CONCLUSION: Almost three out of ten individuals with spinal cord injury were at risk of having a potentially harmful drug interaction. Clinical and communication tools are needed that facilitate identification and elimination of harmful drug combinations in the therapeutic regimens of patients with spinal cord injury.
ABSTRACT
OBJECTIVES: The study objectives were to assess the prevalence of, and factors associated with the use and costs of nonprescription medications among people with spinal cord injury. DESIGN: Observational design; a cross-sectional online survey. SETTING: Community in Canada. PARTICIPANTS: Individuals with spinal cord injury (N=160). INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Not applicable. RESULTS: A total of 160 individuals participated in this study. Of all study participants, 83% reported that they used at least 1 nonprescription medication over the last 12 months. On average, participants spent $52 per month on nonprescription medications. The average use and monthly expenditure did not differ significantly by age, sex, or injury parameters. Vitamins and minerals were most commonly used and constituted 62% of all nonprescription medications listed by the participants. Musculoskeletal issues were the most common health problems for which nonprescription medications were used. CONCLUSION: Nonprescription medications are a common part of therapeutic drug regimens for people with spinal cord injuries and are purchased as an out-of-pocket expense. These products may or may not have established benefits. Knowledge about the use of nonprescription medications may help prescribers to improve drug safety, medication affordability, and quality of pharmacotherapy for patients with spinal cord injury.
