Histopathological Confirmation of Axonal Sprouting in Regenerative Peripheral Nerve Interface.

Symptomatic neuroma represents a debilitating complication after major limb amputation. The regenerative peripheral nerve interface (RPNI) has emerged as a reproducible and practical surgery aimed at mitigating the formation of painful neuroma. Although previous animal studies revealed axonal sprouting, elongation, and synaptogenesis of proximal nerve stump within the muscle graft in RPNI, there is a lack of reports confirming these physiological reactions at the histopathological level in human samples. This report presents a case of below-knee amputation with RPNI due to foot gangrene resulting from polyarteritis nodosa. Subsequently, an above-knee amputation was necessitated due to the exacerbation of polyarteritis nodosa, providing the opportunity for histopathological examination of the RPNI site. The examination revealed sprouting, elongation, and existence of neuromuscular junction of the tibial nerve within the grafted muscle. To the best of our knowledge, this is the first report demonstrating axonal sprouting, elongation, and possibility of synaptogenesis of the nerve stump within the grafted muscle in a human sample.

Factors associated with work sustainability in patients with bone metastasis.

BACKGROUND: Working while receiving cancer treatment is challenging for patients, with considerable impact on their quality of life (QOL). However, there have been no reports on the factors that prevent employment in patients with bone metastases. This study aimed to investigate the employment status and factors impacting the continued employment of patients with bone metastases. METHODS: We analyzed clinical data from new patients consulting The University of Tokyo Hospital team for bone metastasis treatment between June 2015 and September 2017. Patients who were working at the time of cancer diagnosis (n = 124) completed four QOL questionnaires. Factors associated with work sustainability were identified via univariate analysis and a chi-squared test. Multivariate logistic regression analysis was used for significant variables. Relationships between employment and QOL scales were investigated using the Wilcoxon rank-sum test, with P < .05 considered as statistically significant. RESULTS: Among the 124 patients, only 45 (36.3%) were still working when the questionnaire was administered. Multivariate analysis revealed temporary employment, lytic or mixed bone metastases, and lower limb or acetabular metastasis, as significant factors hindering work sustainability. The QOL scores were high in the continued employment group. However, the relationship between employment status and pain remains unclear. CONCLUSIONS: Lytic or mixed bone metastases and the lower limb and acetabular metastasis were significantly associated with employment resignation. Mobility difficulties may prevent patients with bone metastases from sustaining employment. Collaboration between rehabilitation professionals, oncologists, and workplaces is imperative to address this problem.

End-of-life walking ability in cancer patients with spinal metastases.

BACKGROUND: Even terminal cancer patients desire to walk to the toilet by themselves until the very last day. This study aimed to describe the walking ability of patients with spinal metastases at the end-of-life stage and identify the factors affecting this ability. METHODS: Among 527 patients who first visited our multidisciplinary team for bone metastasis between 2013 and 2016, 56 patients who had spinal metastases with a Spinal Instability Neoplastic Score ≥7 and died during follow-up were included. We collected general clinical data, performance status, Frankel classification, epidural spinal cord compression scale and Spinal Instability Neoplastic Score at the first consultation. Patients' last day of walking and date of death were also examined. Univariate analyses (chi-squared tests) were performed to identify the factors that impacted walking ability 30 and 14 days before patients' death. RESULTS: A total of 56 patients were extracted, and 57.1% (32/56) and 32.7% (16/49) of patients were ambulatory 30 and 14 days before death, respectively. Their performance status (P = 0.0007), Frankel grade (P = 0.012) and epidural spinal cord compression grade (P = 0.006) at the first examination, and administration of bone modifying agents during follow-up period (P = 0.029) were significantly related to walking ability 30 days before death. Among ambulatory patients 30 days before death, those with Spinal Instability Neoplastic Score ≥10 (P = 0.005), especially with high scores of collapse (P = 0.002) and alignment (P = 0.002), were less likely to walk 14 days before death. The walking period in the last month of their life was significantly longer in patients with total Spinal Instability Neoplastic Score 7-9 (P = 0.009) and in patients without collapse (P = 0.040) by the Wilcoxon test. CONCLUSION: The progression of spinal metastasis, especially neurological deficit, at the initial consultation were associated with walking ability 30 days before death, and spinal stability might be crucial for preserving walking ability during the last month. Early diagnosis and implementation of appropriate bone management might be important for the end-of-life walking ability.

Longitudinal Analysis of Dysphagia and Factors Related to Postoperative Pneumonia in Patients Undergoing Esophagectomy for Esophageal Cancer.

Few studies have quantified longitudinal changes in swallowing in patients undergoing esophagectomy for esophageal cancer. This study longitudinally analyzed the changes in the Modified Barium Swallow Study Impairment Profile (MBSImP™) scores, swallowing kinematic measurements, and swallowing-related symptoms in patients undergoing esophagectomy. We also examined the association between identified swallowing impairment and aspiration pneumonia after surgery. We included consecutive patients who underwent esophagectomy and completed laryngoscopy and videofluoroscopy before, two weeks, and three months after surgery. We analyzed physiological impairments using the MBSImP. We also assessed the swallowing kinematics on a 5 mL thickened liquid bolus at three time points. Vocal fold mobility was assessed using a laryngoscope. Repeated measures were statistically examined for longitudinal changes in swallowing function. The association between the significant changes identified after esophagectomy and aspiration pneumonia was tested. Twenty-nine patients were included in this study. Preoperative swallowing function was intact in all participants. The timing of swallowing initiation and opening of the pharyngoesophageal segment remained unchanged after surgery. Tongue base retraction and pharyngeal constriction ratio worsened two weeks after surgery but returned to baseline levels three months after surgery. Three months after surgery, hyoid displacement and vocal fold immobility did not fully recover. Aspiration pneumonia occurred in nine patients after surgery and was associated with postoperative MBSImP pharyngeal residue scores. Decreased hyoid displacement and vocal fold immobility were observed postoperatively and persisted for a long time. The postoperative pharyngeal residue was associated with pneumonia and thus should be appropriately managed after surgery.

Intellectual Characteristics in Children With Congenital Unilateral Upper Limb Deficiencies.

Introduction Some children with motor disabilities show low cognitive levels. However, the influence of motor disabilities on children's intelligence remains to be fully elucidated. This study aimed to clarify the intellectual characteristics of children with upper limb deficiencies and the influence of upper limb impairments on intelligence. Methods The participants were 10 children from four to six years of age with congenital unilateral transradial or transcarpal limb deficiencies who received prosthetic interventions. The children's intelligence and adaptive behaviors, including motor skills, were examined using the Wechsler Preschool and Primary Scale of Intelligence and the Vineland Adaptive Behavior Scale, respectively. Results There were no significant characteristics or discrepancies in cognitive level in children with upper limb deficiencies. The Adaptive Behavior Composite Score of the Vineland Adaptive Behavior Scale was significantly positively correlated with the Full-Scale Intelligence Quotient of the Wechsler Preschool and Primary Scale of Intelligence. Conclusions The children with congenital limb deficiencies showed average cognitive levels. Expansion of adaptive behaviors, including appropriate complementation of disabilities, may promote intellectual development in children with motor disabilities.

Most Fractures Treated Nonoperatively in Individuals With Fibrodysplasia Ossificans Progressiva Heal With a Paucity of Flareups, Heterotopic Ossification, and Loss of Mobility.

BACKGROUND: Fibrodysplasia ossificans progressiva (FOP) is an ultrarare genetic disorder with episodic and progressive heterotopic ossification. Tissue trauma is a major risk factor for flareups, heterotopic ossification (HO), and loss of mobility in patients with FOP. The International Clinical Council on FOP generally recommends avoiding surgery in patients with FOP unless the situation is life-threatening, because soft tissue injury can trigger an FOP flareup. Surprisingly little is known about flareups, HO formation, and loss of mobility after fractures of the normotopic (occurring in the normal place, distinct from heterotopic) skeleton when treated nonoperatively in patients with FOP. QUESTIONS/PURPOSES: (1) What proportion of fractures had radiographic evidence of union (defined as radiographic evidence of healing at 6 weeks) or nonunion (defined as the radiographic absence of a bridging callus at 3 years after the fracture)? (2) What proportion of patients had clinical symptoms of an FOP flareup because of the fracture (defined by increased pain or swelling at the fracture site within several days after closed immobilization)? (3) What proportion of patients with fractures had radiographic evidence of HO? (4) What proportion of patients lost movement after a fracture? METHODS: We retrospectively identified 36 patients with FOP from five continents who sustained 48 fractures of the normotopic skeleton from January 2001 to February 2021, who were treated nonoperatively, and who were followed for a minimum of 18 months after the fracture and for as long as 20 years, depending on when they sustained their fracture during the study period. Five patients (seven fractures) were excluded from the analysis to minimize cotreatment bias because these patients were enrolled in palovarotene clinical trials (NCT02190747 and NCT03312634) at the time of their fractures. Thus, we analyzed 31 patients (13 male, 18 female, median age 22 years, range 5 to 57 years) who sustained 41 fractures of the normotopic skeleton that were treated nonoperatively. Patients were analyzed at a median follow-up of 6 years (range 18 months to 20 years), and none was lost to follow-up. Clinical records for each patient were reviewed by the referring physician-author and the following data for each fracture were recorded: biological sex, ACVR1 gene pathogenic variant, age at the time of fracture, fracture mechanism, fracture location, initial treatment modality, prednisone use at the time of the fracture as indicated in the FOP Treatment Guidelines for flare prevention (2 mg/kg once daily for 4 days), patient-reported flareups (episodic inflammatory lesions of muscle and deep soft connective tissue characterized variably by swelling, escalating pain, stiffness, and immobility) after the fracture, follow-up radiographs of the fracture if available, HO formation (yes or no) as a result of the fracture determined at a minimum of 6 weeks after the fracture, and patient-reported loss of motion at least 6 months after and as long as 20 years after the fracture. Postfracture radiographs were available in 76% (31 of 41) of fractures in 25 patients and were independently reviewed by the referring physician-author and senior author for radiographic criteria of fracture healing and HO. RESULTS: Radiographic healing was noted in 97% (30 of 31) of fractures at 6 weeks after the incident fracture. Painless nonunion was noted in one patient who sustained a displaced patellar fracture and HO. In seven percent (three of 41) of fractures, patients reported increased pain or swelling at or near the fracture site within several days after fracture immobilization that likely indicated a site-specific FOP flareup. The same three patients reported a residual loss of motion 1 year after the fracture compared with their prefracture status. HO developed in 10% (three of 31) of the fractures for which follow-up radiographs were available. Patient-reported loss of motion occurred in 10% (four of 41) of fractures. Two of the four patients reported noticeable loss of motion and the other two patients reported that the joint was completely immobile (ankylosis). CONCLUSION: Most fractures treated nonoperatively in individuals with FOP healed with few flareups, little or no HO, and preservation of mobility, suggesting an uncoupling of fracture repair and HO, which are two inflammation-induced processes of endochondral ossification. These findings underscore the importance of considering nonoperative treatment for fractures in individuals with FOP. Physicians who treat fractures in patients with FOP should consult with a member of the International Clinical Council listed in the FOP Treatment Guidelines ( https://www.iccfop.org ). LEVEL OF EVIDENCE: Level IV, therapeutic study.

A Pharmacokinetic, Safety, and Tolerability Trial of Palovarotene in Healthy Japanese and Non-Japanese Participants.

BACKGROUND AND OBJECTIVE: Palovarotene is an oral, selective retinoic acid receptor gamma agonist under investigation for fibrodysplasia ossificans progressiva (FOP). Palovarotene is primarily metabolized by cytochrome P450 (CYP) 3A4. Differences in CYP-mediated metabolism of CYP substrates have been observed between Japanese and non-Japanese individuals. This phase I trial (NCT04829786) compared the pharmacokinetic profile of palovarotene in healthy Japanese and non-Japanese participants and evaluated the safety of single doses. METHODS: Healthy Japanese and non-Japanese participants were matched individually (1:1) and randomized to receive a single oral dose of palovarotene 5 or 10 mg, followed by the alternate dose after a 5-day washout period. Maximum plasma drug concentration (Cmax) and area under the plasma concentration-time curve (AUC) were assessed. Estimates of the geometric mean difference between dose and Japanese and non-Japanese groups were calculated for natural log-transformed Cmax and AUC parameters. Adverse events (AEs), serious AEs, and treatment-emergent AEs were recorded. RESULTS: Eight pairs of matched non-Japanese and Japanese individuals and two unmatched Japanese individuals participated. Mean plasma concentration-time profiles were similar between the two cohorts at both dose levels, demonstrating that palovarotene absorption and elimination are similar irrespective of dose level. The pharmacokinetic parameters of palovarotene were similar between groups at both dose levels. Cmax and AUC values were dose-proportional between doses in each group. Palovarotene was well tolerated; there were no deaths or AEs leading to treatment discontinuation. CONCLUSIONS: Japanese and non-Japanese groups had similar pharmacokinetic profiles, indicating that palovarotene dose adjustments are not necessary for Japanese patients with FOP.

Relationship between degree of disability, usefulness of assistive devices, and daily use duration: an investigation in children with congenital upper limb deficiencies who use upper limb prostheses.

Upper limb prostheses can help children with congenital upper limb deficiencies (ULDs) perform activities of daily living. Although the degree of disability and prosthesis usefulness may be related to becoming accustomed to wearing a prosthesis, these relationships have not been confirmed. This study was aimed at investigating the relationship between motor function, the usefulness of prostheses in everyday activities, and daily duration of prosthesis use in children with congenital ULDs. Eleven children with congenital transcarpal or transradial ULDs and their caregivers participated in this study. The caregivers were asked to complete a questionnaire concerning their children's everyday activities and the daily duration of prosthesis wearing. The adaptive behavior scale was used to measure motor function prior to intervention. Correlations analyses revealed no significant correlation between the children's adaptive behavior, including motor skills before intervention, and daily duration of prosthesis wearing, but revealed a positive correlation between the number of activities that the children performed more effectively with their prostheses and the daily use duration. To ensure that children with congenital ULDs become accustomed to wearing their prostheses, the prostheses should meet the requirements of everyday activities.

Reduction of New Heterotopic Ossification (HO) in the Open-Label, Phase 3 MOVE Trial of Palovarotene for Fibrodysplasia Ossificans Progressiva (FOP).

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare, severely disabling genetic disorder of progressive heterotopic ossification (HO). The single-arm, open-label, phase 3 MOVE trial (NCT03312634) assessed efficacy and safety of palovarotene, a selective retinoic acid receptor gamma agonist, in patients with FOP. Findings were compared with FOP natural history study (NHS; NCT02322255) participants untreated beyond standard of care. Patients aged ≥4 years received palovarotene once daily (chronic: 5 mg; flare-up: 20 mg for 4 weeks, then 10 mg for ≥8 weeks; weight-adjusted if skeletally immature). The primary endpoint was annualized change in new HO volume versus NHS participants (by low-dose whole-body computed tomography [WBCT]), analyzed using a Bayesian compound Poisson model (BcPM) with square-root transformation. Twelve-month interim analyses met futility criteria; dosing was paused. An independent Data Monitoring Committee recommended trial continuation. Post hoc 18-month interim analyses utilized BcPM with square-root transformation and HO data collapsed to equalize MOVE and NHS visit schedules, BcPM without transformation, and weighted linear mixed-effects (wLME) models, alongside prespecified analysis. Safety was assessed throughout. Eighteen-month interim analyses included 97 MOVE and 101 NHS individuals with post-baseline WBCT. BcPM analyses without transformation showed 99.4% probability of any reduction in new HO with palovarotene versus NHS participants (with transformation: 65.4%). Mean annualized new HO volume was 60% lower in MOVE versus the NHS. wLME results were similar (54% reduction fitted; nominal p = 0.039). All palovarotene-treated patients reported ≥1 adverse event (AE); 97.0% reported ≥1 retinoid-associated AE; 29.3% reported ≥1 serious AE, including premature physeal closure (PPC)/epiphyseal disorder in 21/57 (36.8%) patients aged <14 years. Post hoc computational analyses using WBCT showed decreased vertebral bone mineral density, content, and strength, and increased vertebral fracture risk in palovarotene-treated patients. Thus, post hoc analyses showed evidence for efficacy of palovarotene in reducing new HO in FOP, but high risk of PPC in skeletally immature patients. © 2022 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).

Impact of the coronavirus pandemic on families of patients with congenital insensitivity to pain with anhidrosis.

BACKGROUND: Novel coronavirus disease (COVID-19) outbreaks have dramatically changed lifestyles, with various effects on the physical and mental health of families and children with various childhood-onset neurological diseases. A questionnaire survey was conducted to identify family-specific issues and needs of patients with congenital insensitivity to pain with anhidrosis (CIPA) during major changes in their daily lives due to the COVID-19 outbreaks. METHODS: An anonymous questionnaire was sent to 56 families that were members of the Association of Patients and Families of CIPA in Japan between October and November 2020, the first 2 months of the third outbreak. RESULTS: Thirty-eight families (67.2% response rate) responded to the questionnaire. The current concerns of the parents were (1) difficulty in predicting the future (19 parents, 50%), (2) household and work concerns (eight parents, 21.1%), and (3) whether they would become infected (25 parents, 65.8%). Fifteen families indicated stress due to increased time together (stress + group), and 10 families had a better understanding of each other due to increased time together. New sleep disturbances and behavioral changes were observed in approximately 20% and 50% of patients with CIPA, respectively. No single factor could explain family stress. There were also free descriptions of the importance of peer support, connections with experts, and prompt responses for resolution. CONCLUSIONS: Each family has its own way of coping with multiple factors that contribute to the stress of the patient and family. A long-established resilience to the disease proved effective during this pandemic.

Long-term dental outcomes in patients with fibrodysplasia ossificans progressiva: a report of three cases of tooth extraction.

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare autosomal dominant disorder characterized by congenital skeletal malformation and progressive heterotopic ossification. In the oral and maxillofacial region, deformity of the temporomandibular joint is a common feature of FOP, as well as restricted mouth opening derived from heterotopic ossification in the masticatory muscles. Since surgical procedures are generally not recommended because of the risk of flare-ups and increased heterotopic ossification, reports of tooth extractions and their outcomes in patients with FOP are limited. The present article reports the long-term oral outcomes of three Japanese patients with FOP, in whom the teeth were deliberately extracted to avoid the risk of oral inflammation causing further heterotopic ossification. The extractions were conducted under local or general anesthesia, and healing of sockets was nonproblematic with the formation of new bone. Undesirable events, including progression of heterotopic ossification in the oral and maxillofacial region and further restriction of mouth opening, were not apparent. The extractions also alleviated the existing inflammation, contributing to maintaining their oral hygiene. These cases suggest that deliberate planning and judicious surgery could induce favorable healing after tooth extractions in patients with FOP, leading to long-term stability of their oral health status.

Gene Therapy for Fibrodysplasia Ossificans Progressiva: Feasibility and Obstacles.

Fibrodysplasia ossificans progressiva (FOP) is a rare and devastating genetic disease, in which soft connective tissue is converted into heterotopic bone through an endochondral ossification process. Patients succumb early as they gradually become trapped in a second skeleton of heterotopic bone. Although the underlying genetic defect is long known, the inherent complexity of the disease has hindered the discovery of effective preventions and treatments. New developments in the gene therapy field have motivated its consideration as an attractive therapeutic option for FOP. However, the immune system's role in FOP activation and the as-yet unknown primary causative cell, are crucial issues which must be taken into account in the therapy design. While gene therapy offers a potential therapeutic solution, more knowledge about FOP is needed to enable its optimal and safe application.

Predictive Factors for Oral Intake Recovery After Acute Stroke: Analysis of a Japanese Nationwide Inpatient Database.

OBJECTIVE: It remains unclear which factors contribute to dysphagia recovery after an acute stroke. This study aimed to identify factors associated with complete oral intake recovery in patients with post-stroke dysphagia. METHODS: Data were obtained from the Diagnosis Procedure Combination database, which is a nationwide database of administrative claims and discharge abstracts in Japan. We selected patients admitted within 3 days of stroke onset and conducted multivariable logistic regression analysis. Total oral intake within 30 days of admission was the primary outcome measure. RESULTS: A total of 151,302 patients were included, and total oral intake was observed in 48% of them within 30 days of admission. Total oral intake was significantly associated with age, sex, stroke subtype, consciousness disturbance, low body mass index, multiple comorbidities, and the modified Rankin Scale before stroke onset. In addition, males had worse outcomes than females (odds ratio, 0.75; 95% confidence interval, 0.73-0.77, p < 0.001), and intracerebral and subarachnoid hemorrhagic stroke subtypes were associated with non-recovery. CONCLUSION: This study identified several prognostic factors for total oral intake in patients with acute stroke. These results may be useful for predicting a patient's dysphagia prognosis at the time of admission and designing a nutritional management plan for patients with acute stroke.

Inconvenience and adaptation in Japanese adult achondroplasia and hypochondroplasia: A cross-sectional study.

The health-related quality of life is reduced in patients with achondroplasia (ACH) and hypochondroplasia (HCH); however, the detailed inconveniences in the daily living and individual adaptations have not been elucidated. This study aimed to evaluate the inconvenience and adaptation in patients with ACH/HCH. A cross-sectional study was conducted in patients with ACH/HCH aged 20 yr or older. Questionnaires were sent to 567 patients (described 86) with a medical history at the co-authors' institutions or who were registered at the patients' association with ACH in Japan. The questionnaire included a free description format for the inconveniences and adaptations in daily living; a content analysis was performed. The recorded inconveniences included 148 physical, 84 mental, and 52 social problems. Patients who underwent spine surgery had significantly more recorded physical problems than those who did not (p < 0.05). Pain and numbness were significantly higher in patients aged ≥ 50 yr (p < 0.05). The 160 and 1 adaptations were for physical and social problems, respectively. No patient adaptation was found for mental health problems. Individual adaptations by ACH/HCH patients can improve only some aspects of physical and social problems. Multilateral social support is needed to resolve patients' issues.

Body knowledge in children with spina bifida.

BACKGROUND: Patients with spina bifida suffer from motor paralysis and sensory disturbance, secondary deformation of the lower extremities, and development of decubitus ulcers. A deep understanding of one's body, such as identifying the names, functions, relationships, homology (e.g. upper and lower limbs) and relative position of body parts, may prevent secondary disorders. The awareness of the body and its characteristics in children with spina bifida has not been fully elucidated. This study aimed to investigate how children with spina bifida perceive their bodies, especially their paralyzed parts and related or homologous ones. METHODS: Participants included 36 children with spina bifida and 14 control children, aged 5-11 years. They were asked to draw self-portraits, and to answer questions about the names of body parts. The number of drawn body parts in the pictures and the correct response rates to the questions were quantified and compared between children with spina bifida and control children. RESULTS: Children with spina bifida drew fewer hands, legs, and feet than control children. In the verbal tests, children with spina bifida had a lower correct response rate than control children on questions concerning the upper limbs, hands, trunk, and feet. CONCLUSIONS: Children with spina bifida have diminished visuospatial and lexical-semantic body knowledge of the paralyzed parts and related organs.

Visual attention to their own paralytic limbs in children with spina bifida: Measurement of gaze direction using eye tracking.

BACKGROUND: Patients with spina bifida experience sensory and motor paralysis and complications in the form of deformation and skin problems of the lower limbs. Enhancing their awareness of the paralysed lesions could be helpful for these patients to prevent secondary disorders. This study sought to investigate to what extent children with spina bifida are visually aware of their body parts and, in particular, to their paralysed lesions. METHODS: Participants included children with spina bifida (n = 10) and typically developing control children (n = 10) between the ages of 5 and 11 years. All participants were shown still images of themselves on a monitor after which their gaze direction was measured using an eye tracker, with or without providing an instruction to direct their attention to their limbs. The gaze direction data were analyzed and compared between children with spina bifida and the control children. RESULTS: Children with spina bifida paid visual attention to their bodies in a manner similar to that of control children. Prompts to direct their attention to their limbs were effective in both groups; however, the degree of efficacy in children with spina bifida was inferior to that in control children. CONCLUSIONS: Promotion of visual awareness to their paralytic parts could be a reasonable and effective method for children with spina bifida to improve their understanding and recognition of their body and prevent associated skin problems.

Health-related Quality of Life in Adult Patients with Multiple Epiphyseal Dysplasia and Spondyloepiphyseal Dysplasia.

OBJECTIVES: Multiple epiphyseal dysplasia (MED) and spondyloepiphyseal dysplasia (SED) are skeletal dysplasias associated with premature osteoarthritis and short stature. Patients with SED often have spinal and ocular problems. Few reports have focused on the health-related quality of life (HRQoL) of patients with skeletal dysplasias associated with premature osteoarthritis. The purpose of this study was to evaluate the HRQoL of adult patients with MED and SED. METHODS: Questionnaires covering demographics, medical history (cataract, retinal detachment, and osteoarthritis), surgical history (osteotomy and arthroplasty), and the Short Form-36 (SF-36) health survey were sent to all patients with MED and SED with medical records at the investigators' institutions. Among the 27 patients who completed the questionnaire, patients aged 20 years or older were included in this cohort. RESULTS: The subjects were 18 affected individuals. The physical component summary score (PCS) was significantly lower in the MED and SED groups than in the normal population and tended to deteriorate with age. Conversely, there was a positive correlation between the mental component summary score and age. The role/social component summary score was not correlated with age. MED patients with osteoarthritis had a low PCS. PCS was particularly low in two SED patients with a medical history of cataract, whereas there was no association with a history of retinal detachment or osteoarthritis. CONCLUSIONS: The physical domain of HRQoL in MED and SED patients significantly deteriorated at a young age. Appropriate medical management of these skeletal dysplasias is required not only for orthopedic functions but also for ocular problems.

Sex-Based Differences in the Drop Vertical Jump as Revealed by Video Motion Capture Analysis Using Artificial Intelligence.

BACKGROUND: Sex-based biomechanical differences during a drop vertical jump (DVJ) may explain the increased risk of anterior cruciate ligament injury in females. Video motion capture using artificial intelligence (VMocap) is a new method for accurate motion analysis. PURPOSE: To use VMocap to identify sex-based differences in biomechanics during a DVJ in Asian athletes. STUDY DESIGN: Controlled laboratory study. METHODS: A total of 63 female and 61 male Asian soccer players volunteered for this study in 2018. Participants performed a bilateral DVJ using VMocap, and the knee valgus angle (KVA), knee flexion angle (KFA), hip flexion angle (HFA), and lower leg anterior inclination angle (LAIA) were calculated from the motion capture data. These joint angles and inclination angles were evaluated at the time of highest point of the first jump (H1), initial contact (IC), maximum knee flexion (MKF), toe-off (TO), and highest point of the second jump (H2). The unpaired t test was used to compare sex-based differences. RESULTS: At H1, the KVA in females showed more valgus (-2.9° vs -5.4°) and the LAIA in females was greater (29.1° vs 25.7°) versus males (P < .01 for both). At IC, the KVA in females showed more valgus (-1.3° vs -3.0°) and females had a greater KFA (20.8° vs 14.3°) and LAIA (5.1° vs 0.0°) compared with males (P < .01 for all). At MKF, female KVA showed more valgus (6.2° vs -9.5°), and females had greater LAIA (36.6° vs 34.6°), smaller KFA (77.5° vs 87.5°), and smaller HFA (55.8° vs 82.0°) compared with males (P < .01 for all). At TO, female KVA showed more valgus (-0.7° vs -3.1°) and female KFA, HFA, and LAIA were greater (31.7° vs 19.2°; 19.9° vs 16.4°; and 18.2° vs 11.5°, respectively) than males (P < .01 for all). At H2, females had a greater KFA (18.6° vs 14.6°) and LAIA (13.3° vs 9.9°) than males (P < .04 for both). CONCLUSION: Asian female soccer players showed increased KVA and LAIA, decreased KFA and HFA at MKF, and increased KFA at IC and TO compared with their male counterparts in this analysis of the DVJ. CLINICAL RELEVANCE: Elucidation of kinematic differences between the sexes can aid in predicting injuries.

Hip Abductor Muscle Strength Deficit as a Risk Factor for Inversion Ankle Sprain in Male College Soccer Players: A Prospective Cohort Study.

BACKGROUND: Previous studies have attempted to determine whether certain risk factors can predict the occurrence of inversion ankle sprains in male collegiate soccer players. However, no consensus has been reached on the predictive risk factors of inversion ankle sprain in this population. PURPOSE: To identify risk factors for inversion ankle sprains among male collegiate soccer players. STUDY DESIGN: Cohort study; Level of evidence, 2. METHODS: Included were 145 male collegiate soccer players in Japan who were assessed during a preseason medical checkup for potential risk factors of inversion ankle sprain. The preseason assessment included anthropometric measurements, joint laxity and flexibility, muscle flexibility, muscle strength, and balance ability, with a total of 33 variables. The participants were monitored during the 2019 season for inversion ankle sprains as diagnosed by physicians. RESULTS: A total of 31 inversion ankle sprains in 31 players (21.4%) occurred during the season. Only the measured isometric hip abductor strength was significantly lower in injured players as compared with uninjured players. Logistic regression analysis revealed measured hip abductor muscle strength deficit as a significant risk factor for inversion ankle sprain (odds ratio, 0.978 [95% CI, 0.976-0.999]; P = .05). CONCLUSION: Hip abductor strength deficit was a risk factor for inversion ankle sprain in the study population. This finding could be useful for the prevention of inversion ankle sprains in male collegiate soccer players.