bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mucopolysaccharidosis and Adulthood: Genetics, Inheritance, and Reproductive Options
Authors: Wilson Alison , Lavery Christine , Stewart Fiona , Thomas Sophie , Cavell Deborah , Brandon Rebecca , Murphy Elaine , Wilcox Gisella , Talaulikar Vikram 
Published: October 2018

AbstractThe mucopolysaccharide diseases are a group of heterogeneous, inherited conditions that are characterized by the deficiency of specific lysosomal enzymes. These lysosomal enzymes are responsible for the breakdown of glycosaminoglycans (GAGs), which are a key component of connective tissue. When lysosomal enzymes are deficient, the resultant build-up of GAGs impacts on cellular functioning. The resultant clinical manifestations are multisystemic, progressive, and life-limiting. Although each condition is characterized by its own constellation of symptoms; there is a great deal of heterogeneity and overlap in the clinical manifestations (both within and between mucopolysaccharidosis [MPS] subtypes). Increasing understanding of the genetic and biochemical basis of the MPS diseases has paved the way for a wave of exciting developments in their treatment and management. New treatments have changed the face of many of the MPS diseases; and as a result, management has moved beyond the pediatric clinic into the adult clinic. For the first time, individuals with MPS are living into adulthood with fewer limitations than the natural course of their disease would predict. It is essential that in this new age of MPS disease management, early diagnosis achieved and those at risk of having a child affected by one of these conditions are appropriately counseled in relation to their reproductive options. It is also important that individuals with MPS are counseled independently, at an appropriate age (or when they have capacity) about the basis of their disease and what this means for them. Here we discuss the diagnosis and inheritance of the MPS conditions; specifically focusing on genetic counseling requirements. We also discuss the outcomes of a research study, undertaken by the UK Mucopolysaccharide Disease Society, into the experiences of women with MPS who have had successful pregnancies.
Daily Life Coping with Mucopolysaccharidoses: A Few Devices Showing the Possibilities of Helping Morquio Patients
Authors: Wiesbauer Widmer Christine , Wiesbauer Alfred , Wiesbauer Sophie 
Published: October 2018

AbstractMucopolysaccharidoses (MPS) show a strong involvement of the skeleton and the joints and partly a significant reduction in growth. Nevertheless, adult patients are particularly interested in being recognized as integrated members of society, and having families and professions. Because of their physical limitations, they always reach their limits. In recent years, numerous devices have come on the market and/or have been improved, which can make everyday life easier. Various improvements are due to new materials such as carbon or silicon and due to electronics/robotics. Amenities such as automated doors, motion detectors, lifts, smartphones with integrated remote control, among others, originally invented for normal consumers prove to be a great help for handicapped persons. What was meant for the masses proves to be extremely useful for patients with MPS.
Lysosomes and Their Role in Mucopolysaccharide Disorders: New Insights
Authors: Kircher Susanne , Taylor Thomas 
Published: October 2018

AbstractMucopolysaccharidoses (MPS) belong to the group of lysosomal storage diseases and are characterized by the deficiency of lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs). They are caused by inherited enzyme deficiencies that result from mutated genes producing defective enzymes. In MPS, the step-wise degradation process of GAG chains is impaired, and thus pieces of undegraded chains remain in the lysosomes impeding other processes in these cell organelles. Several enzymes—currently 12 are known—are necessary to degrade GAGs to sugars and small chemical substances, such as sulfate- or amino groups, to prepare them for excretion via exocytosis or to reintegrate them into new molecules by recycling. GAGs are major components of the connective tissue but play a role in shaping the vicinity of each cell surface as well; hence, any disturbance in their metabolism causes problems not limited to connective tissue but other tissues and organs. Therefore, MPS are multisystemic diseases involving many organs and restrict a wide range of organ functions. Organomegaly, typical skeletal changes known as “dysostosis multiplex,” excessive storage in the nervous system with neurologic symptoms and impaired cognitive function have been known as the typical symptoms of the first classical MPS types for some time now. Because of new therapies and improved care, the life expectancy of MPS patients has increased significantly. Results of investigations that have only become available recently and new methods allowing for fine-meshed observation have revealed unexpected findings. These outcomes are not limited to excessive storage: patients show unpredictable reactions of the immune system, chronic inflammation, changes in metabolic pathways not directly related to the connective tissue, such as chronic arthritis, osteopenia, Parkinson-like symptoms, signs of dementia, and many more, which suggest that lysosomes have many more roles than just degradation of no longer needed macromolecules.
Albumin, Prealbumin, and Transferrin May Be Predictive of Wound Complications following Total Knee Arthroplasty
Authors: Roche Martin , Law Tsun , Sodhi Nipun , Rosas Samuel , Elson Leah , Summers Spencer , Sabeh Karim , Mont Michael , Kurowicki Jennifer 
Published: October 2018

AbstractNutritional status has become increasingly important in optimizing surgical outcomes and preventing postoperative infection and wound complications. However, currently, there is a paucity in the orthopaedics literature investigating the relationship between nutritional status and wound complications following total knee arthroplasty (TKA). Therefore, the purpose of this study was to determine the prevalence of (1) postoperative infections, (2) wound complications, (3) concomitant infection with wound (CoIW) complication, and (4) infection followed by wound complication by using (1) albumin, (2) prealbumin, and (3) transferrin levels as indicators of nutritional status. These four different outcome measures were chosen as they are encountered commonly in daily clinical practice. A retrospective review of a national private payer database for patients who underwent TKA with postoperative infections and wound complications stratified by preoperative serum albumin (normal: 3.5–5 g/dL), prealbumin (normal: 16–35 mg/dL), and transferrin levels (normal: 200–360 mg/dL) between 2007 and 2015 was conducted. Patients were identified by Current Procedural Terminology (CPT), International Classification of Disease, ninth revision (ICD-9) codes, and Logical Observation Identifiers Names and Codes (LOINC). Linear regression was performed to evaluate changes over times. Yearly rates of infection, as well as a correlation and odds ratio analysis of nutritional laboratory values to postoperative complications, were also performed. Our query returned a total of 161,625 TKAs, of which 11,047 (7%) had postoperative wound complications, 18,403 (11%) had infections, 6,296 (34%) had CoIW, and 4,877 (4%) patients with infection developed wound complications. Albumin was the most commonly ordered laboratory test when assessing complications (96%). Wound complications, infections, CoIW, and infection with wound complications after were higher in those below the normal range: albumin <3.5 g/dL (9, 14, 6, and 5%), prealbumin <15 mg/dL (20, 23, 13, and 12%), and transferrin <200 mg/dL (12, 17, 6, and 6%). Preoperative albumin, prealbumin, and transferrin values falling below the normal range represented an increased risk for postoperative complications. Those patients who were in the normal range, however, did not have an increased risk. Therefore, our results suggest that preoperative nutritional optimization can play an important role in reducing the risk for postoperative complications.
The Role of Umbilical Cord Blood Concentration of IGF-I, IGF-II, Leptin, Adiponectin, Ghrelin, Resistin, and Visfatin in Fetal Growth
Authors: Yalinbas Emine , Binay Cigdem , Simsek Enver , Aksit Mehmet 
Published: October 2018

Objective Herein, we measured the concentration of insulinlike growth factor I (IGF-I), IGF-II, leptin, adiponectin, ghrelin, resistin, and visfatin in the umbilical cord blood of newborns categorized as “small for gestational age” (SGA), “appropriate for gestational age” (AGA), and “large for gestational age” (LGA). Our aim was to elucidate the link between the levels of these proteins and fetal growth.
Study Design A total of 96 term infants were included and categorized into three weight categories. Their venous cord blood samples were collected to measure the levels of IGF-I, IGF-II, leptin, adiponectin, ghrelin, resistin, and visfatin.
Results IGF-I, visfatin, and leptin levels showed significant differences among the groups. Pairwise comparisons showed that adiponectin (p = 0.023), resistin (p = 0.025), and ghrelin (p = 0.005) levels were significantly lower in the SGA group than in the LGA group. Correlation analyses showed a strong association of IGF-1, IGF-II, and leptin levels with birth weight (r = 0.644, p < 0.001; r = 0.441, p < 0.001; and r = 0.404, p < 0.001, respectively).
Conclusion SGA newborns showed a significantly higher visfatin concentration and lower ghrelin, leptin, resistin, and adiponectin levels than the AGA and LGA newborns did.
PaO2/FiO2 Ratio as Predictor of Mortality in Neonates with Meconium Aspiration Syndrome
Authors: Narayanan Anand , Batra Prerna , Faridi Mohammed , Harit Deepika 
Published: October 2018

Objectives Partial arterial pressure of oxygen/fraction of oxygen in inspired air (PaO2/FiO2) ratio has been used as a predictor of outcome in some neonatal conditions, but has not been used in meconium aspiration syndrome (MAS). This study was conducted with the objective to study if the PaO2/FiO2 ratio of < 200 at 6, 12, and 24 hours of life can predict mortality in neonates with MAS.
Study Design Two hundred neonates with MAS were included in the study. PaO2/FiO2 ratio was calculated at 6, 12, and 24 hours of life. Sensitivity, specificity, predictive values, and likelihood ratio at cut-off < 200 to predict mortality was calculated.
Results PaO2/FiO2 ratio at cut-off of < 200 was found to predict mortality in neonates with MAS with 94.1% sensitivity and 96.6% specificity. It was also able to predict development of severe MAS.
Conclusion PaO2/FiO2 at < 200 can predict all-cause mortality in neonates with MAS. It can be used as vital tool in identifying newborns at high risk, thus helping in focused care.
Effect of Femoral Antetorsion on Tibiofemoral Translation and Rotation in the Anterior Cruciate Ligament Deficient Knee
Authors: Omar Mohamed , Al Saiegh Yousif , Liodakis Emmanouil , Stuebig Timo , Guenther Daniel , Steimer David , Hawi Nael , Krettek Christian , Suero Eduardo M. 
Published: October 2018

AbstractWe aimed to investigate how increased or decreased femoral antetorsion would affect the biomechanics of the knee in an anterior cruciate ligament (ACL)-deficient cadaveric model. We hypothesized that external or internal rotation of the distal femur, achieved through a femoral osteotomy, would affect the magnitude of tibiofemoral translation and rotation. Navigated measurements of tibiofemoral translation and rotation during the anterior drawer, Lachman, and pivot shift tests were performed on six whole-body cadaveric specimens in each of the following four conditions: native, ACL-deficient knee, ACL-deficient knee and 20-degree internal distal femur rotation, and ACL-deficient knee and 20-degree external distal femur rotation. Increased femoral antetorsion significantly reduced anterior tibial translation in the ACL-deficient knee during the anterior drawer, Lachman, and pivot shift tests (p < 0.05). Conversely, decreasing femoral antetorsion resulted in an increase in anterior tibial translation in the anterior drawer (nonsignificant), Lachman (p < 0.05), and pivot shift (p < 0.05) tests. Internally rotating the distal femur significantly reduced the magnitude of tibial rotation during the pivot shift test in the ACL-deficient knee (p < 0.05), whereas external rotation of the distal femur significantly increased tibial rotation (p < 0.05). The magnitude of femoral antetorsion affects tibiofemoral translation in an ACL-deficient cadaveric mode. Internally rotating the distal femur 20 degrees reduced the magnitude of tibial translation and rotation similar to that of the native knee, whereas externally rotating the distal femur aggravated translational and rotational instability.
Effects of an Intervention to Improve Life-Space Mobility and Self-Efficacy in Patients following Total Knee Arthroplasty
Authors: Hiyama Yoshinori , Kamitani Tsukasa , Mori Kazuaki 
Published: October 2018

AbstractLife-space mobility describes the spatial areas through which an individual moves, and the frequency and need for assistance. Although patients with knee osteoarthritis (OA) have shown restricted life-space mobility, total knee arthroplasty (TKA) does not improve it beyond preoperative levels. Life-space mobility after TKA was influenced by self-efficacy for walking tasks; thus, an intervention to improve self-efficacy for walking tasks may contribute to better life-space mobility. We provided a walking event including several walking tasks as the intervention. We assessed the effect of the walking event on life-space mobility and self-efficacy for walking tasks in patients following TKA. In this nonrandomized controlled trial, patients who underwent primary TKA were recruited. After recruitment, patients who could not participate in the walking event due to scheduling conflicts were included in the control group. The walking event consisted of 3.5 km of walking course and included walking tasks as follows: crossing at the crosswalk, walking up- and downstairs without a railing, walking along dirt roads, and walking up and down a slope. The primary outcome was life-space mobility measured using Life-Space Assessment (LSA) and self-efficacy for walking tasks measured using the modified Gait Efficacy Scale (mGES). We enrolled 104 patients, of whom 36 were assigned to the intervention group and participated in the walking event. Participants in the intervention group had significantly better LSA score (adjusted mean difference between groups: 13.9; 95% confidence interval: 12.4–15.5; p < 0.001) and mGES score (adjusted mean difference between groups: 13.8; 95% confidence interval: 12.4–15.1; p < 0.001) than the control group even after adjusting for age, gender, body mass index, elapsed time from surgery, the severity of knee OA of nonoperated limb, and patient-reported functional outcome. The walking event including various walking tasks improved life-space mobility and self-efficacy in patients following TKA. It is important to design a program that can improve self-efficacy for walking tasks through mastery experiences to improve life-space mobility after TKA.
Periprosthetic Fracture following Partial Knee Arthroplasty
Authors: Brown Nicholas M. , Engh Gerard , Fricka Kevin 
Published: October 2018

AbstractPartial knee arthroplasty is a procedure with long-term successful outcomes. However, there are several potential complications including retained cement fragments, bearing dislocation, infection, component loosening, medial collateral ligament injury, and overcorrection, leading to progressive arthritis. Periprosthetic fracture is an uncommon complication, with multiple reports showing an incidence of less than 1%. Hence, there are no established algorithms to guide treatment. A consecutive series of 2,464 patients who underwent partial knee arthroplasty between January 2009 and April 2017 was reviewed. We identified 16 patients with early periprosthetic fracture, with an incidence of 0.6%. All of these were tibial fractures, which occurred at a mean of 35 days postoperatively. There were 5 males and 11 females, with an average age of 70 years at the time of surgery. Average follow-up was 62 months. Two patients had contralateral compartment insufficiency fractures that were successfully treated nonoperatively, five patients immediately underwent total knee arthroplasty (TKA), and nine patients underwent open reduction internal fixation (ORIF). Two of these cases had a failed ORIF and required conversion to TKA. Seven patients were successfully treated with a medial buttress plate in compression. Average Knee Society Score at final follow-up was 81, and average flexion was 115 degrees, with no patients having greater than 5-degree flexion contracture. Periprosthetic fracture following partial knee arthroplasty resulted in a high rate of conversion TKA. However, ORIF in select patients resulted in fracture healing and retention of the partial knee replacement. All patients were successfully treated with low complication rates, excellent range of motion, and acceptable knee scores at final follow-up.
Carpal Alignment: A New Method for Assessment
Authors: Selles C. , Ras L. , Walenkamp M. , Maas M. , Goslings J. , Schep N. 
Published: October 2018

Background Carpal alignment may be used as a tool to evaluate fracture reduction in patients with distal radius fractures. However, there is little consensus on how to measure and quantify carpal alignment.
Purpose The aim of this study was to compare the inter- and intraobserver variability of a new perpendicular method with the existing method in fractured and unfractured wrists. Additionally, the normal distribution of carpal alignment in unfractured wrists was investigated.
Patients and Methods Carpal alignment was assessed on lateral plain radiographs using two different methods, one described by Ng and McQueen and another newly proposed method, the perpendicular method. Using the perpendicular method, the observer draws one line along the inner rim of the volar cortex of the radius and one perpendicular line to the center of the capitate. The carpus is aligned when the line along the inner rim transects the center of the capitate. Three examiners measured the carpal alignment in 50 patients with nonfractured and 50 patients with fractured distal radius. Intra- and interobserver variability for both methods were determined.
Results The interobserver coefficient for the perpendicular method was 0.98 and that for the Ng method was 0.86. The intraobserver coefficients for three examiners were 0.89, 0.62, and 0.63, respectively, for the Ng method. For the perpendicular method, the intraobserver variability was 0.96, 0.89, and 0.72, respectively. In patients with unfractured wrists, the mean perpendicular to the center of the capitate was 0.25 mm dorsally.
Conclusion The new proposed method is a reproducible method for measuring carpal alignment with a high inter- and intraclass coefficient.
Clinical Relevance This method of measurement allows for a reproducible technique for measuring carpal alignment.
Dorsal Lunate Facet Fracture Reduction Using a Bone Reduction Forceps
Authors: Lans Jonathan , Alvarez Josefina , Kachooei Amir , Ozkan Sezai , Jupiter Jesse 
Published: October 2018

Background The dorsal lunate facet fragment represents part of a complex articular injury of the distal radius and is challenging to reduce through a standard volar approach. We propose reduction through a standard volar approach and intraoperative dorsal lunate facet reduction using a bone forceps. To evaluate the postoperative reduction, we used computed tomography (CT) scan.
Methods We retrospectively included 60 patients with a median follow-up of 44 weeks. Fracture reduction was evaluated using pre- and direct postoperative CT scans of the wrist, measuring the articular gap and step of the sigmoid notch. The range of motion was evaluated clinically by the treating physician. Bivariate analysis was performed to compare pre- and postoperative radiographic measurements and to compare wrist range of motion.
Results When comparing the injured with the uninjured wrist, there was a significant difference in flexion, extension, pronation, and supination. In 87% of the patients, there was complete radiographic reduction of the fracture.
Conclusion This study shows that dorsal ulnar lunate facet fracture fragments in distal radius fractures can be reduced through a standard volar approach with the help of an intraoperative bone reduction forceps. Using wrist CT, we showed that 87% of the patients with a dorsal ulnar lunate facet fragment had a postoperative articular step or gap of <1 mm.
Level of Evidence: This is a level IV, therapeutic study.
“Post Traumatic Brain Abscess Mimicking as Pneumatocele”: An Uncommon Presentation
Authors: Varshney Rahul , Bhakal Nitin , Gupta L. , Pandey Sharad , Sharma Rajesh 
Published: October 2018

AbstractPneumatocele is a very rare complication that follows head injury. Pneumatocele can result due to a craniodural fistula, formed either after a fracture involving air sinuses, roof of middle ear, or depressed fracture of skull. Gas-containing brain abscess is a life-threatening condition, which requires immediate diagnosis and prompt therapeutic intervention. The predisposing factors include hematogenous spread, contiguous infection, and abnormal fistulous communication due to head injury. This is a rare case in which the patient had a history of head trauma due to road traffic accident with frontal contusion and small pneumocephalus, which was managed conservatively 2 years earlier followed by cerebrospinal fluid (CSF) rhinorrhea after 2 months, which was also managed by nonsurgical management. He presented with intractable seizures and features of raised intracranial pressure (ICP) with imaging suggestive of air-containing cavity in frontal region (pneumatocele). Intraoperatively, there was brain abscess with dural defect for which abscess was excised, and dural repair with exteriorization of frontal sinus was done.
Raf kinase inhibitor protein negatively regulates FcεRI-mediated mast cell activation and allergic response
Authors: Lin Wenlong , Su Fasheng , Gautam Rahul , Wang Ning , Zhang Yuanyuan , Wang Xiaojian 
Published: October 2018

Significance
Mast cell activation contributes to multiple allergic disorders, such as asthma, rhinitis, and atopic dermatitis. Here, we demonstrate that the Raf kinase inhibitor protein (RKIP) functions as an inhibitor of mast cell activation. RKIP negatively regulates the pathogeneses of the mast cell-mediated anaphylactic response and allergic asthma in vivo. Furthermore, the expression of RKIP was significantly down-regulated in peripheral blood from asthma patients. Collectively, our findings not only suggest that RKIP plays an important role in controlling mast cell-mediated allergic responses but also provide insight into therapeutic targets for mast cell-related allergic diseases.