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Duarte galactosemia is not classic galactosemia, but rather an example of biochemical variant galactosemia that results in approximately 25% residual activity of galactose-1-phosphate uridylyltransferase (GALT) enzyme. In contrast, classic galactosemia is associated with complete or near complete absence of GALT activity. While infants with classic galactosemia are placed on galactose-restricted diets to prevent the acute and long-term manifestations of their metabolic disorder, while individuals with Duarte variant galactosemia (Duarte-2 galactosemia) do not require diet therapy. The long-term complications that are seen in classic galactosemia such as cerebellar ataxia, and hypergonadotropic hypogonadism do not occur in Duarte-2 galactosemia. While Duarte galactosemia does not appear to be a metabolic disease, it may have an impact on early neurodevelopmental outcomes. This study examined developmental outcomes and the need for special services in individuals with Duarte-2 galactosemia in comparison to indiservices. These results suggest that Duarte-2 galactosemia increases the risk for early mild developmental delays irrespective of treatment history, which resolves over time, and highlights the need to further assess neurodevelopment in early infancy, in Duarte-2 galactosemia. As Duarte-2 galactosemia is not a bona fide biochemical genetic disease, we hypothesize that elements in the genomic space that include the GALT gene are responsible for a transient delay in language-related motor skills during early infancy.There has been significant change in the health care policy in the United States in recent years with an increasing focus on health care costs and patient satisfaction. One strategy of cost containment is to transition outpatient surgery away from high cost hospital environments. Total ankle arthroplasty has begun the evolution to outpatient settings; however, there is limited published literature on the results of outpatient total ankle arthroplasty (TAA). The purpose of the present study was to review the safety profile of same day outpatient TAA at an ambulatory surgery center. A review of consecutive patients who underwent same day outpatient TAA for end-stage ankle arthritis with a minimum of 12 months' follow-up was performed. The primary outcomes assessed were the incidence of perioperative adverse medical events, hospital admissions related to the procedure, and postoperative complications (minor and major). Univariate analyses were performed. Fifty-one patients who underwent same-day TAA between June 2016 and July 2018 were included; mean follow-up was 20.7 months (± 7.6). The mean age at time of surgery was 56.5 years (± 7.2), with a mean body mass index of 30.4 (± 5.3). Overall, there were no perioperative adverse medical events or hospital admissions related to the procedure. Five minor complications (9.8%) and 7 major (13.7%) were recorded. Of the major complications, only 1 required TAA revision. Implant survivorship during the most recent follow-up was 98%. The present study suggests that TAA can be performed safely in an outpatient ambulatory setting. Additional comparative studies with larger TAA cohorts and patient reported outcomes are warranted.The objective of this study was to identify predictors of 12-mo areal bone density accrual in different body segments, lean soft tissue, and osteogenic characteristics attributed to sports participation among adolescent girls and boys. Adolescents (Girls [n = 64], [aged = 14.7]); Boys [n = 129], [aged = 14.6]) were stratified into three groups according to their engagement in different sports (Control [n = 68], Swimming [n = 25], and Weight-bearing sports [n = 100]). Areal bone density (aBMD [g/cm²]) and lean soft tissue (LST) [kg] were measured by dual-energy x-ray absorptiometry (DXA; Lunar DPX-NT; General Electric Healthcare, Little Chalfont, Buckinghamshire, United Kingdom). The ground reaction force (GRF) index attributed to sports participation (Sport-GRF) was created considering the GRF attributed to each sport, body weight of the adolescent, and the amount of time spent in sports participation. Osteocalcin levels (ng/mL) were estimated from a venous blood sample. Multiple regression analysis showed that after adjusting for covariates, the models involving sport-GRF, LST (Δ), and osteocalcin explained 15.8% to 76.2% of the aBMD gains. Specifically in girls, OC was only associated with lower limb aBMD accrual. In boys, however, sport ground reaction forces were positively associated with total spine aBMD accrual. Furthermore, the LST (Δ) was positively associated with aBMD accrual in all body sites (β = 0.003 to 0.011) in both sexes. Increases in LST contributed significantly to gains in aBMD accrual in both sexes, being a more important predictor of changes in bone outcomes than ground reaction forces and osteocalcin.We aimed to compare serum concentrations of sclerostin and DKK-1 in young (20-30 yrs, n = 25) and middle-aged (35-45 yrs, n = 25) premenopausal women and based on physical activity (PA) status. PA status was assessed by the International Physical Activity Questionnaire (low-moderate (≤ 2999 MET-min/week) and high (≥ 3000 MET-min/week). Serum sclerostin and DKK-1 levels were measured in fasting morning blood samples by ELISA. Areal bone mineral density (aBMD) was measured by DXA, and non-dominant tibia bone characteristics were assessed by pQCT. After adjusting for total body aBMD, middle-aged women had significantly (p less then 0.001) higher (0.54 ± 0.01 ng/mL) serum sclerostin than young women (0.41 ± 0.01 ng/mL), and sclerostin was positively correlated with age (rs = 0.065, p ≤ 0.001) and total PA score (rs = 0.33, p = 0.021). Young women had higher left trochanter aBMD (p = 0.036) than middle-aged women and aBMD variables were higher (all p ≤ 0.043) in the high active group. Middle-aged women had highe inhibitors.Previous studies have examined the utility of bilateral DXA hip bone mineral density (BMD) scans. While most studies demonstrate an advantage of bilateral hip scanning, the studies have been limited by size, or have not included simultaneous lumbar spine scans. To analyse the utility of dual hip scans in a clinical environment, a large retrospective study was performed of DXA BMD of both hips, and lumbar spine, in 17,169 individuals assessed at one centre over 10 years. There was no clinically significant difference in the population mean femoral neck BMD of the left vs the right leg (0.878 vs 0.881g/cm2) or total proximal femoral BMD of the left vs the right leg (0.920 vs 0.919g/cm2). There were however discrepancies in individuals between hip t-scores. For the total hip 1,977 (11.5 %) and 147 (0.9 %) of subjects had absolute t score differences ≥ 0.50 or ≥ 1.00. respectively. For the femoral neck 3,320 (19.3%) and 337 (2.0%) of subjects had absolute t score differences ≥ 0.50 or ≥ 1.00. respectively. Of the total 17,169 individuals there were 2,776 subjects with osteoporosis (T≤ -2.5) using the lumbar spine and right hip, compared to 2,834 subjects using the lumbar spine and left hip. Using the lumbar spine and both hips identified 3,214 individuals with osteoporosis. Diagnosis based on use of the lumbar spine and right hip BMD, or lumbar spine and left hip BMD, therefore failed to identify 15.8%, or 13.4%, of osteoporotic subjects respectively. Additional scanning time required was assessed in 40 subjects prospectively. Performing lumbar spine and both hips, compared to lumbar spine and one hip, required an average additional scan time of 55 seconds. The recommendation of best practise for DXA BMD measurements should be reviewed to consider lumbar spine and dual hip DXA as standard of care.Measuring bone density (BD) is a common method of determining bone quality; however, the relationship between condylar BD and the occurrence of temporomandibular joint (TMJ) disorders has not been investigated. To address this knowledge gap, we aimed to investigate condylar BD in terms of TMJ disk displacement (TMJ DD) using computed tomography (CT) and magnetic resonance imaging (MRI). We classified TMJ MRI results according to the position of the disk normal disk position (Normal), anterior disk displacement with reduction (ADDR), and anterior disk displacement without reduction (ADDNR). After retrospectively evaluating 86 female condyles, we determined the total, cortical, and trabecular BD in the upper-joint portion of the condyle and the whole condyle using CT data. To standardize condylar BD, we calculated the BD ratios by dividing the condylar BD by the cervical axis BD. The Kruskal-Wallis test analyzed the differences in BD measurements in the TMJ DD patient groups and showed significant between-group differences in condylar BD. The total and trabecular BD was significantly higher in ADDNR condyles than in Normal or ADDR condyles (Normal = ADDR less then ADDNR). However, there was no significant difference in the cortical BD among the three TMJ DD groups. The BD ratios showed a similar tendency with condylar BD. These results suggest that increased condylar BD - specifically total and trabecular BD - may be significantly associated with ADDNR condyles. GLX351322 mw Our findings will help clinicians determine the course of treatment for patients with disk-related TMJ disorders.
Spontaneous pneumomediastinum (SPM) is a rare condition defined by the presence of air in the mediastinum in the absence of traumatic or iatrogenic injury. Although the imaging findings and complications of SARS-CoV-2 infection have been reported many times, there are few reports of the prevalence and outcomes of patients with SPM.
In this paper, we aimed to illustrate the different manifestations, management, and outcome of three cases of SPM in COVID-19 patients and provide an extensive review available literature.
Detailed report of patients' demographics, clinical presentation, management, and outcome of three cases of COVID-19 induced SPM seen in our institution was provided. Additionally, literature search was employed through March 2021 using Pubmed and Google scholar databases where a total of 22 articles consisting of 35 patients were included.
Statistical analysis of the reviewed articles showed that SPM in COVID-19 occurs in patients with a mean age of 55.6 ± 16.7 years. Furthermore, 80% of the 35 patients are males and almost 60% have comorbidities. Intriguingly, SPM in COVID-19 is associated with a 28.5% mortality rate. These findings are consistent with our case series and are different from previous reports of SPM in non-COVID-19 cases where it most commonly occurs in younger individuals and has a self-limiting course with a good outcome.
Therefore, SPM in COVID-19 patients occurs in older patients and is potentially associated with a higher mortality rate. Further studies are necessary to assess its role as a prognostic marker of poor outcome.
Therefore, SPM in COVID-19 patients occurs in older patients and is potentially associated with a higher mortality rate. Further studies are necessary to assess its role as a prognostic marker of poor outcome.Mesenchymal stem cells (MSCs) are a potential source of angiogenic factors which may promote wound healing in poorly vascularized diabetic foot ulcers. We demonstrate that MSCs of patients with diabetic foot ulcers seeded on decellularized micro-fragments transcribe and secrete angiogenic factors in amounts comparable to MSCs derived from healthy individuals.
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