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Journal of Pediatric Genetics Jun 2024Transient receptor potential vanilloid 4 channel ( ) gene mutations have been described in skeletal system and peripheral nervous system pathology. The case described...
Transient receptor potential vanilloid 4 channel ( ) gene mutations have been described in skeletal system and peripheral nervous system pathology. The case described here is a 9-year-old male child patient, born to a nonconsanguineous marriage with normal birth history who had difficulty in walking and stiffness of joints for the last 7 years, and progressive weakness of all four limbs and urine incontinence for 1 year following falls. Physical examination showed below-average weight and height and short trunk. Musculoskeletal examination revealed bony prominence bilaterally in the knee joints and contractures in knee and elbow joints with brachydactyly; muscle tone was increased, with brisk deep tendon reflexes. Skeletal survey showed platyspondyly with anterior beaking with metaphyseal dysplasia. Magnetic resonance imaging of the spine revealed atlantoaxial instability with hyperintense signal changes at a cervicomedullary junction and upper cervical cord with thinning and spinal canal stenosis suggestive of compressive myelopathy with platyspondyly and anterior beaking of the spine at cervical, thoracic and lumbar vertebrae. Exome sequencing revealed a heterozygous de novo variant c.2389G > A in exon 15 of , which results in the amino acid substitution p.Glu797Lys in the encoded protein. The characteristics observed indicated spondylometaphyseal dysplasia, Kozlowski type (SMD-K). The child underwent surgical intervention for compressive myelopathy by reduction of atlantoaxial dislocation with C1 lateral mass and C2 pars fusion using rib graft and fixation using screws and rods. To conclude, for any child presenting with progressive kyphoscoliosis, short stature, platyspondyly, and metaphyseal changes, a diagnosis of SMD-K should be considered and the patient and family should be advised to avoid spinal injuries.
PubMed: 38721578
DOI: 10.1055/s-0041-1741424 -
Orthopaedic Surgery Nov 2023Primary hyperparathyroidism (PHPT) is an endocrine disorder with high serum calcium and parathyroid hormone (PTH) levels. Excessive secretion of PTH can cause bone loss...
BACKGROUND
Primary hyperparathyroidism (PHPT) is an endocrine disorder with high serum calcium and parathyroid hormone (PTH) levels. Excessive secretion of PTH can cause bone loss and may have potential damage to implant fixation after total knee arthroplasty (TKA). However, there is currently no research or literature reporting prosthesis loosening after TKA associated with PHPT.
CASE PRESENTATION
This case report describes a TKA failure of tibial prothesis loosening associated with PHPT. The patient faced aggravated pain and difficulty in walking 6 months after the primary TKA. Further examinations showed high serum calcium and PTH levels indicating the presence of PHPT. After the surgery of parathyroidectomy, the patient received revision TKA with 3D-printed metaphyseal cone. Knee symptoms and function were finally improved.
CONCLUSION
PHPT is a risk factor for prosthesis loosening after TKA. Preoperative screening test of serum calcium and PTH levels is important to diagnose PHPT. For patients with PHPT undergoing TKA, preoperative endocrinotherapy and parathyroidectomy are recommended to improve the survival of prosthesis.
Topics: Humans; Arthroplasty, Replacement, Knee; Calcium; Hyperparathyroidism, Primary; Prosthesis Failure; Parathyroid Hormone
PubMed: 37749766
DOI: 10.1111/os.13892 -
Orthopaedic Surgery Jan 2024There is a lack of studies on the quality of life (QoL) after posterior laminectomy in patients with thoracic ossification of the ligamentum flavum (TOLF), and risk...
OBJECTIVE
There is a lack of studies on the quality of life (QoL) after posterior laminectomy in patients with thoracic ossification of the ligamentum flavum (TOLF), and risk factors associated with poor prognosis remain controversial. Therefore, the present study was conducted to illustrate the QoL for TOLF patients after surgery and determine its relationship with their demographic, surgery-related, clinical characteristics and imaging data.
METHODS
One hundred and eighteen patients diagnosed with thoracic myelopathy because of TOLF were enrolled in this retrospective study. They all underwent posterior decompressive laminectomy from August 2010 to January 2022. The QoL was evaluated based on the EQ-5D-5L. Collecting gender, age, number of operations, compressed segments, Frankel grade, complications, body mass index (BMI), symptoms and duration, modified Japanese Orthopaedic Association (mJOA) score (preoperative), follow-up time and type of ossification, increased signal on Sagittal T2-weighted Images (ISST2I), occupancy rate and analyzing by Mann-Whitney U-test, Kruskal-Wallis test, the χ -test, and logistic regression tests.
RESULTS
Average follow-up 70.8 months (18-149), the mean age was 59.74 ± 9.81 years and the mean score for the QoL based on the EQ-5D-5 L and visual analogue scale (VAS) score were 0.71 ± 0.28 and 78.88 ± 10.21 at the final follow-up. Moderate and severe problems were found in the pain/discomfort in 22.0% of the patients. These mobility and usual activities numbers were slightly higher (24.6% and 30.4%, respectively). The mean scores for QoL and VAS were significantly higher in patients with mild and moderate neurological impairment, normal BMI, <60 years of age, no dural tears, symptom relief at hospital discharge, unilateral and bilateral ossification on axial CT scan, ≤ 50% spinal canal occupancy on CT and MRI, and none or fuzzy on ISST2I.
CONCLUSION
QoL after posterior laminectomy in TOLF patients is generally satisfactory compared to preoperative levels. Preoperative mJOA score, Age, comorbid diabetes, the major symptom is activity limitation, BMI, ISST2I, Intraoperative dural tears and spinal canal occupancy rate correlate significantly with the corresponding dimensions and are predictive. Age, spinal canal occupancy rate, ISST2I, preoperative mJOA score, BMI are significantly associated with and have predictive value for overall postoperative QoL.
Topics: Humans; Middle Aged; Aged; Quality of Life; Osteogenesis; Ligamentum Flavum; Retrospective Studies; Ossification, Heterotopic; Thoracic Vertebrae; Laminectomy; Treatment Outcome; Decompression, Surgical
PubMed: 38010864
DOI: 10.1111/os.13937 -
Neurological Sciences : Official... Jul 2024This study aimed to develop a Japanese version of the New Freezing of Gait Questionnaire (NFOG-Q) and investigate its validity and reliability.
OBJECTIVE
This study aimed to develop a Japanese version of the New Freezing of Gait Questionnaire (NFOG-Q) and investigate its validity and reliability.
METHODS
After translating the NFOG-Q according to a standardised protocol, 56 patients with Parkinson's disease (PD) were administered it. Additionally, the MDS-UPDRS parts II and III, Hoehn and Yahr (H&Y) stage, and number of falls over 1 month were evaluated. Spearman's correlation coefficients (rho) were used to determine construct validity, and Cronbach's alpha (α) was used to examine reliability.
RESULTS
The interquartile range of the NFOG-Q scores was 10.0-25.3 (range 0-29). The NFOG-Q scores were strongly correlated with the MDS-UPDRS part II, items 2.12 (walking and balance), 2.13 (freezing), 3.11 (freezing of gait), and 3.12 (postural stability) and the postural instability and gait difficulty score (rho = 0.515-0.669), but only moderately related to the MDS-UPDRS item 3.10 (gait), number of falls, disease duration, H&Y stage, and time of the Timed Up-and-Go test (rho = 0.319-0.434). No significant correlations were observed between age and the time of the 10-m walk test. The internal consistency was excellent (α = 0.96).
CONCLUSIONS
The Japanese version of the NFOG-Q is a valid and reliable tool for assessing the severity of freezing in patients with PD.
Topics: Humans; Male; Female; Aged; Parkinson Disease; Gait Disorders, Neurologic; Reproducibility of Results; Surveys and Questionnaires; Japan; Middle Aged; Translating; Severity of Illness Index; Aged, 80 and over; East Asian People
PubMed: 38383749
DOI: 10.1007/s10072-024-07405-y -
Journal of Spine Surgery (Hong Kong) Mar 2024Cervical spondylotic myelopathy (CSM) is defined as compression of the spinal cord in the neck, resulting in problems with fine motor skills, hand numbness, pain or... (Review)
Review
Cervical spondylotic myelopathy (CSM) is defined as compression of the spinal cord in the neck, resulting in problems with fine motor skills, hand numbness, pain or stiffness of the neck, and difficulty walking due to loss of balance. Brachial plexus (BP) neuropathies arise due to compression to any distal branches arising from C5-T1, whereas cervical radiculopathy involves compression at the nerve root in the neck. Such conditions can present with variable degrees of musculoskeletal pain, weakness, sensory changes, and reflex changes. The pronounced convergence in symptomatic manifestation within these conditions can pose a formidable challenge to clinicians, particularly in primary care. Thus, the primary objective of this paper is to enhance clarity and distinction among these pathological conditions. This objective is pursued through comprehensive delineation of the dermatomal and myotomal distributions characteristic of each condition. Furthermore, a meticulous examination is undertaken to elucidate physical indicators and maneuvers that exhibit a notably high sensitivity in detecting these conditions. Accurate diagnosis and treatment of each nerve pathology is important as long-term spinal cord compression and its roots may result in permanent disability and severely impact one's quality of life. As such, this systematic review serves as a guide that aids clinicians in differentiating the aforementioned conditions based on anatomy, physical exam findings, and imaging studies. Furthermore, this study aims to outline common peripheral nerve neuropathies in the upper extremities and ways to mitigate these pathologies using the least to most invasive treatment modalities.
PubMed: 38567008
DOI: 10.21037/jss-23-39 -
GeroScience Apr 2024The association of leukocyte telomere length (LTL) with survival to late life with intact mobility has not been adequately studied. This prospective cohort study...
The association of leukocyte telomere length (LTL) with survival to late life with intact mobility has not been adequately studied. This prospective cohort study consisted of 1451 postmenopausal women from a Women's Health Initiative ancillary study, who were eligible, because of birth year, to survive to age 90 as of March 6, 2021. LTL was measured by Southern blot at baseline (1993-1998). Associations between LTL and survival to age 90 were evaluated using logistic regression models adjusted for socio-demographic characteristics, health factors, and lifestyle factors. Multinominal logistic regression was utilized to examine associations of LTL with survival to age 90 with or without intact mobility. Mediation analysis examined the extent to which incident coronary heart disease and stroke-mediated the association between LTL and longevity. Overall, 76.7% of women were White, and 23.3% were Black; average age at baseline was 70.4±3.5 years. Relative to death before age 90, the odds of survival to age 90 were 60% higher (OR, 1.60; 95% CI, 1.28-2.01), the odds of survival to age 90 with mobility limitation were 72% higher (OR, 1.72; 95% CI, 1.33-2.21), and the odds of survival to age 90 with intact mobility were 44% higher (OR, 1.44; 95% CI, 1.06-1.95) for every one kilobase longer LTL. Absence of CHD, stroke, or CHD/stroke mediated the association of LTL with survival to age 90 by 11.1%, 37.4%, and 31.3%, respectively; however, these findings were not significant. Longer LTL was associated with higher odds of survival to age 90 among older women.
Topics: Humans; Female; Aged; Aged, 80 and over; Longevity; Prospective Studies; Telomere; Leukocytes; Stroke
PubMed: 37843740
DOI: 10.1007/s11357-023-00964-6 -
Dentistry Journal Jul 2023The purpose of this study was to evaluate the clinical efficacy of a non-surgical periodontal treatment using a piezoelectric power-driven device with a novel insert....
The purpose of this study was to evaluate the clinical efficacy of a non-surgical periodontal treatment using a piezoelectric power-driven device with a novel insert. Plaque index (PlI), bleeding on probing (BoP), probing depth (PD), recession depth (Rec) and clinical attachment level (CAL) were assessed at 6 weeks, 3 months and 6 months. Furthermore, tooth mobility and furcation involvement were recorded and chewing discomfort and dental hypersensitivity were evaluated. Eighteen stage I to IV periodontitis patients providing 437 teeth and 2622 sites in total were analyzed. At six weeks, CAL gain (0.4; < 0.0001), PD reduction (0.4; < 0.0001) and Rec increase (0.1; = 0.0029) were statistically significant. Similarly, the mean number of sites with PD > 4 mm and absence of BoP significantly decreased between baseline and 6 weeks (-12.7; < 0.0001). At this time point, the patient's chewing discomfort was also significantly diminished (1.4; = 0.0172). Conversely, no statistically significant changes were observed between 6 weeks and 3 months and between 3 months and 6 months for any of the clinical variables evaluated. In conclusion, within the limitation of this study, mechanical piezo-assisted non-surgical periodontal treatment in conjunction with an innovative tip resulted significantly efficacious to reduce pathological periodontal pockets, to gain clinical attachment and to reduce gingival inflammation.
PubMed: 37504244
DOI: 10.3390/dj11070178 -
Cureus Mar 2024Cerebral palsy (CP) manifests as atypical muscle tone, posture, and movement, and is classified into four main types: extrapyramidal (dyskinetic), spastic quadriplegia,...
Cerebral palsy (CP) manifests as atypical muscle tone, posture, and movement, and is classified into four main types: extrapyramidal (dyskinetic), spastic quadriplegia, spastic hemiplegia, and spastic diplegia. Patients with CP might move awkwardly because of this since it indicates that their muscles are tense. We report the case of a 13-year-old child who complained of soreness in his right calf muscle and trouble walking over the previous two years. His condition is recognized as spastic diplegic CP. This report aims to understand the impact of neurophysiotherapy procedures in the context of CP. Physical therapy employs various therapeutic techniques to help patients become more independent in carrying out their everyday tasks and enhance their quality of life, including stretching, proprioceptive neuromuscular facilitation, limb strengthening exercises, and gait training. Early rehabilitation aids in treating various motor functions, such as balance, posture, oral motor functioning, fine motor skills, gross motor skills, muscle control, muscle tone, reflexes, and body movement. It also helps children with CP reach their full potential for physical independence and fitness and enhances the quality of life for both the child and the family. Pediatric rehabilitation yields significant benefits in alleviating walking difficulty and calf muscle pain in individuals with spastic diplegic CP and clubfoot deformity.
PubMed: 38586773
DOI: 10.7759/cureus.55697 -
Journal of Safety Research Feb 2024Crossing streets represents a risky task for children where they have to assess both the probability and harm severity of being hit by a vehicle. To cross streets...
INTRODUCTION
Crossing streets represents a risky task for children where they have to assess both the probability and harm severity of being hit by a vehicle. To cross streets safely, children must perceive and interpret the traffic environment and scale their movements to the flow of traffic. Their ability to gather information about the surrounding environment through visual search strategies is essential in this process. This study aimed to explore children's street crossing behaviors and to identify successful risk-assessment strategies.
METHOD
Virtual reality (VR) with built-in eye tracking was used for this investigation; 55 children between 7 and 10 years old completed six street crossing tasks with varying complexity and difficulty.
RESULTS
Varying competencies in street crossing were demonstrated among the children. Those who crossed safely looked to the left and right more often to check for traffic and spent more time assessing the traffic environment by following oncoming vehicles with their gaze before crossing than those who crossed dangerously. No apparent differences between children who crossed safely and those who crossed dangerously were found while crossing.
CONCLUSIONS
The findings suggest that dangerous street crossings were, on different levels, related to assessment time before crossing, visual search strategies during assessment time, and the tasks harm severity and probability risk.
PRACTICAL APPLICATIONS
Future research could suggestively include indicators such as assessment time and visual search strategies, and tasks could discern harm severity and probability risk. These indicators might also be considered for training programs aiming to enhance children's pedestrian safety.
Topics: Child; Humans; Safety; Accidents, Traffic; Virtual Reality; Dangerous Behavior; Risk Assessment; Pedestrians; Walking
PubMed: 38485352
DOI: 10.1016/j.jsr.2023.10.002 -
Aging Clinical and Experimental Research Mar 2024We assessed whether clinical, functional and behavioral factors were associated with the decrease in mobility trajectories reported in older people at risk of sarcopenia...
BACKGROUND
We assessed whether clinical, functional and behavioral factors were associated with the decrease in mobility trajectories reported in older people at risk of sarcopenia (RS) and without risk of sarcopenia (NRS) during COVID-19 pandemic.
METHODS
We prospectively analyzed mobility trajectories reported in older adults with RS and NRS over 16-month follow-up (Remobilize study). The self-perceived risk of sarcopenia and mobility were assessed using the SARC-F and the Life-Space Assessment (LSA) tools, respectively. Gender, age, comorbidities, pain, functional limitation, physical activity (time spent in walking; min/week), and sitting time (ST; hours/day) were assessed. We used a multilevel model to determine changes in mobility between groups and over time.
RESULTS
Mobility was lower in RS than in NRS. Older people at RS, who were women, aged 70-79 years and 80 years or older, inactive, and with moderate to severe functional limitation experienced reduced mobility trajectories reported over the pandemic. For older people at NRS, trajectories with reduce mobility reported were experienced by women with comorbidities, for those with insufficient walking time and aged 70-79 years; aged 70-79 years and with ST between 5 and 7 hours/day; for those with insufficient walking time and increased ST; and for those with pain and increased ST.
CONCLUSION
Mobility trajectories reported in older people at risk of sarcopenia were negatively influenced by insufficient level of physical inactivity and pre-existing moderate to severe functional limitation. Health and social interventions should be target to avoid mobility limitation during and after the COVID-19 pandemic.
Topics: Humans; Female; Aged; Male; Sarcopenia; Pandemics; COVID-19; Exercise; Pain; Mobility Limitation
PubMed: 38546804
DOI: 10.1007/s40520-024-02720-y