Symptom Locus and Symptom Origin Incongruity in Runner's Dystonia - Case Study of an Elite Female Runner.
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ABSTRACT:
SUBMITTER: Ogasawara I
PROVIDER: S-EPMC8716826 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Runner’s dystonia (RD) is a task-specific focal dystonia of the lower limbs that occurs when running. In this retrospective case series, we present surface electromyography (EMG) and joint kinematic data from thirteen patients with RD who underwent instrumented gait analysis (IGA) at the Functional and Biomechanics Laboratory at the National Institutes of Health. Four cases of RD are described in greater detail to demonstrate the potential utility of EMG with kinematic studies to identify dystonic muscle groups in RD. In these cases, the methodology for muscle selection for botulinum toxin therapy and the therapeutic response is discussed. Lateral heel whip, a proposed novel presentation of lower-limb dystonia, is also described.
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Project description:The purpose of this study is to identify lower-extremity (LE) musculoskeletal characteristics of elite female soccer players and to determine whether differences between dominant and nondominant extremities exist with respect to strength, flexibility, and range of motion. Physical data were collected from 26 female professional soccer players. Core control, hip and knee passive range of motion (PROM), LE flexibility, hip abductor strength, and dynamic functional alignment were assessed for each LE. Of 26 subjects, 21 scored 2/5 or less on core control. Mean hip internal rotation and external rotation were 33 degrees (+/-8 degrees) and 25 degrees (+/-6.7 degrees), respectively. All subjects had shortened two-joint hip flexors with an average knee flexion angle of 50 degrees (+/-11 degrees) and increased femoral anteversion. Forty one of 48 dominant limbs and 42 of 48 nondominant limbs demonstrated deviations from neutral alignment during step down or single-leg squat. Of 25 subjects, 15 demonstrated a stiff-knee landing and/or takeoff. All subjects demonstrated limitations in hip external rotation PROM and hip flexor length. There was no difference between dominant and nondominant LEs in all variables including hip abductor strength. Additional research is needed to determine if there is a correlation between the musculoskeletal characteristics, LE biomechanics, and potential risk for injury.IV.
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Project description:BackgroundTraumatic occipitocervical dislocations (OCDs) are rare and potentially devastating injuries, and delayed diagnosis and management is a well-known risk factor for poor outcomes in high energy trauma. Early surgical stabilization has been shown to improve outcomes and neurologic recovery in these patients. We present a case of incongruent atlanto-occipital (O-C1) joints found on post-operative computed tomography (CT) imaging following C1-C2 fusion. This patient was treated non-operatively in a cervical collar (C-collar) after traction testing revealed no dynamic instability.Case descriptionA 19-year-old male with history of obesity was involved in a high-speed motor vehicle collision (MVC). On arrival, he had elevated troponins but otherwise normal laboratory workup and electrocardiogram (EKG). He remained hypotensive throughout his initial presentation. A reliable neurologic exam could not be obtained due to the patient's intubated and sedated status, however, bulbocavernosus reflex was intact, reflexes were normal and the patient did not demonstrate evidence of spinal or neurogenic shock. CT of the full spine revealed distraction of the C1-C2 articulation without associated fracture, and without clear disruption or distraction of the O-C1 joint. He was taken to the operating room for C1-C2 posterior instrumentation and fusion. Post-operative cervical spine CT revealed further distraction and subluxation of the occipitocervical junction bilaterally, with condyle to C1 interval (CCI) of 4-mm bilaterally, a basion-dens interval (BDI) of 10 mm, and a Power's Ratio of 1.1. The patient was brought back urgently to the operating room for traction testing to rule out OCD. There was no distraction noted on dynamic traction testing, and the patient was treated non-operatively in a C-collar. At 12 weeks post-injury, the patient experienced no neck pain, and flexion/extension radiographs showed no evidence of subluxation or distraction at the O-C1 joints.ConclusionsIncongruity of the O-C1 joint may not be synonymous with instability as previously thought, and in cases of O-C1 incongruity with stable traction testing, non-operative treatment with external immobilization can be considered as a viable treatment option even in the polytraumatized patient.
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Project description:BackgroundAlthough many recessive loci causing parkinsonism dystonia have been identified, these do not explain all cases of the disorder.MethodsWe used homozygosity mapping and mutational analysis in three individuals from two unrelated families who presented with adult-onset levodopa-responsive dystonia-parkinsonism, pyramidal signs and cognitive/psychiatric features, and cerebral and cerebellar atrophy on magnetic resonance imaging but absent iron in the basal ganglia.ResultsWe identified areas of homozygosity on chromosome 22 and, subsequently, PLA2G6 mutations.InterpretationPLA2G6 mutations are associated with infantile neuroaxonal dystrophy and have been reported previously to cause early cerebellar signs, and the syndrome was classified as neurodegeneration with brain iron accumulation (type 2). Our cases have neither of these previously pathognomic features. Thus, mutations in PLA2G6 should additionally be considered in patients with adult-onset dystonia-parkinsonism even with absent iron on brain imaging.
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Project description:Five affected individuals with syndromic tremulous dystonia, spasticity, and white matter disease from a consanguineous extended family covering a period of over 24 years are presented. A positional cloning approach utilizing genome-wide linkage, homozygozity mapping and whole exome sequencing was used for genetic characterization. The impact of a calmodulin-binding transcription activator 2, (CAMTA2) isoform 2, hypomorphic mutation on mRNA and protein abundance was studied using fluorescent reporter expression cassettes. Human brain sub-region cDNA libraries were used to study the expression pattern of CAMTA2 transcript variants.Linkage analysis and homozygozity mapping localized the disease allele to a 2.1 Mb interval on chromosome 17 with a LOD score of 4.58. Whole exome sequencing identified a G>A change in the transcript variant 2 5'UTR of CAMTA2 that was only 6 bases upstream of the translation start site (c.-6G > A) (NM_001171166.1) and segregated with disease in an autosomal recessive manner. Transfection of wild type and mutant 5'UTR-linked fluorescent reporters showed no impact upon mRNA levels but a significant reduction in the protein fluorescent activity implying translation inhibition.Mutation of CAMTA2 resulting in post-transcriptional inhibition of its own gene activity likely underlies a novel syndromic tremulous dystonia.
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Project description:It has been suggested that successful young gymnasts are a highly select group in terms of the physique. This review summarizes the available literature on elite female gymnasts' anthropometric characteristics, somatotype, body composition and biological maturation. The main aims were to identify: (i) a common physique and (ii) the differences, if any, among competitive/performance levels. A systematic search was conducted online using five different databases. Of 407 putative papers, 17 fulfilled all criteria and were included in the review. Most studies identified similar physiques based on: physical traits (small size and low body mass), a body type (predominance of ecto-mesomorphy), body composition (low fat mass), and maturity status (late skeletal maturity as well as late age-at-menarche). However, there was no consensus as to whether these features predicted competitive performance, or even differentiated between gymnasts within distinctive competitive levels. In conclusion, gymnasts, as a group, have unique pronounced characteristics. These characteristics are likely due to selection for naturally-occurring inherited traits. However, data available for world class competitions were mostly outdated and sample sizes were small. Thus, it was difficult to make any conclusions about whether physiques differed between particular competitive levels.
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Project description:This study explored the anthropometric and body composition characteristics of elite female rugby union players, comparing between and within different playing positions. Thirty elite female rugby union players (25.6 ± 4.3 y, 171.3 ± 7.7 cm, 83.5 ± 13.9 kg) from New Zealand participated in this study. Physical characteristics were assessed using anthropometric (height, body mass, skinfolds) and body composition (dual-energy X-ray absorptiometry) measures. Forwards were significantly taller (p < 0.01; d = 1.34), heavier (p < 0.01; d = 2.19), and possessed greater skinfolds (p < 0.01; d = 1.02) than backs. Forwards also possessed significantly greater total (p < 0.01; d = 1.83-2.25) and regional (p < 0.01; d = 1.50-2.50) body composition measures compared to backs. Healthy bone mineral density values were observed in both forwards and backs, with significantly greater values observed at the arm (p < 0.01; d = 0.92) and femoral neck (p = 0.04; d = 0.77) sites for forwards. Tight-five players were significantly heavier (p = 0.02; d = 1.41) and possessed significantly greater skinfolds (p < 0.01; d = 0.97) than loose-forwards. Tight-five also possessed significantly greater total body composition measures (p < 0.05; d = 0.97-1.77) and significantly greater trunk lean mass (p = 0.04; d = 1.14), trunk fat mass (p < 0.01; d = 1.84), and arm fat mass (p = 0.02; d = 1.35) compared to loose-forwards. Specific programming and monitoring for forwards and backs, particularly within forward positional groups, appear important due to such physical characteristic differences.
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Project description:BackgroundBrain metastasis mainly originates from lung cancer. Napsin A and TTF-1 factors have frequently been detected in lung adenocarcinoma cases. Brain metastasis tumors with napsin A and TTF-1 positive are easily classified as lung adenocarcinoma origin. However, some thyroid cancers also exhibit these clinical features. Besides, lung is the most common metastasis of undifferential thyroid cancer. Therefore, it requires development of novel diagnostic tools to aid in distinguishing between pulmonary and thyroid origin.Patient findingsWe reported a case that was initially diagnosed as brain metastatic lung cancer based on immunohistochemistry results. Analysis of next-generation sequencing (NGS) data from the brain lesion revealed that the cancer may have originated from the thyroid. We detected combo mutations in TERT promoter mutation, RET fusion and TP53, which are common in undifferential thyroid cancer (UTC), but rare for lung cancer. These results, coupled with identification of PAX8, indicated that this patient had UTC. Additionally, her three sons, despite being asymptomatic, were all diagnosed with papillary thyroid carcinoma.SummaryThe patient received anlotinib treatment and showed good clinical outcomes. One month after anlotinib treatment, the pulmonary nodules were found to be controlled, and the thyroid tumor drastically reduced, and tracheal compression relieved. She continued anlotinib treatment for the following two months, but died one month later because the treatment stopped owing to financial reasons. All her sons underwent total thyroidectomy with lymph node dissection.ConclusionsAlthough NGS has been reported to assist in diagnosis of the origin of some tumors, this is the first evidence of NGS for the determination of the origin of thyroid tumors. To our knowledge, this is the first time that a combination of multiple mutations has been used to help determine the origin of a tumor, compared with the previous single mutant gene. Moreover, this is the first evidence on the use of anlotinib for treatment of UTC with distant metastasis. Besides, all three sons of the patient had thyroid carcinoma in subsequent examinations, indicating high-risk for familial non-medullary thyroid cancer in UTC patients and necessity for performing thyroid ultrasound testing in other family members.
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Project description:BACKGROUND:The earliest brain pathology related to Alzheimer's disease (AD) is hyperphosphorylated soluble tau in the noradrenergic locus coeruleus (LC) neurons. Braak characterizes five pretangle tau stages preceding AD tangles. Pretangles begin in young humans and persist in the LC while spreading from there to other neuromodulatory neurons and, later, to the cortex. While LC pretangles appear in all by age 40, they do not necessarily result in AD prior to death. However, with age and pretangle spread, more individuals progress to AD stages. LC neurons are lost late, at Braak stages III-IV, when memory deficits appear. It is not clear if LC hyperphosphorylated tau generates the pathology and cognitive changes associated with preclinical AD. We use a rat model expressing pseudohyperphosphorylated human tau in LC to investigate the hypothesis that LC pretangles generate preclinical Alzheimer pathology. METHODS:We infused an adeno-associated viral vector carrying a human tau gene pseudophosphorylated at 14 sites common in LC pretangles into 2-3- or 14-16-month TH-Cre rats. We used odor discrimination to probe LC dysfunction, and we evaluated LC cell and fiber loss. RESULTS:Abnormal human tau was expressed in LC and exhibited somatodendritic mislocalization. In rats infused at 2-3?months old, 4 months post-infusion abnormal LC tau had transferred to the serotonergic raphe neurons. After 7 months, difficult similar odor discrimination learning was impaired. Impairment was associated with reduced LC axonal density in the olfactory cortex and upregulated ?1-adrenoceptors. LC infusions in 14-16-month-old rats resulted in more severe outcomes. By 5-6?months post-infusion, rats were impaired even in simple odor discrimination learning. LC neuron number was reduced. Human tau appeared in the microglia and cortical neurons. CONCLUSIONS:Our animal model suggests, for the first time, that Braak's hypothesis that human AD originates with pretangle stages is plausible. LC pretangle progression here generates both preclinical AD pathological changes and cognitive decline. The odor discrimination deficits are similar to human odor identification deficits seen with aging and preclinical AD. When initiated in aged rats, pretangle stages progress rapidly and cause LC cell loss. These age-related outcomes are associated with a severe learning impairment consistent with memory decline in Braak stages III-IV.
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