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Muscular dystrophy is a group of genetic disorders characterised by degeneration of muscles. Different forms of muscular dystrophy can show varying phenotypes with a wide range of age, severity and location of muscle deterioration. Many palliative care options are available for muscular dystrophy patients, but no curative treatment is available. Exon-skipping therapy aims to induce skipping of exons with disease-causing mutations and/or nearby exons to restore the reading frame, which results in an internally truncated, partially functional protein. In antisense-mediated exon-skipping synthetic antisense oligonucleotide binds to pre-mRNA to induce exon skipping. Recent advances in exon skipping have yielded promising results; the US Food and Drug Administration (FDA) approved eteplirsen (Exondys51) as the first exon-skipping drug for the treatment of Duchenne muscular dystrophy, and in vivo exon skipping has been demonstrated in animal models of dysferlinopathy, limb-girdle muscular dystrophy type 2C and congenital muscular dystrophy type 1A. Novel methods that induce exon skipping utilizing Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) are also being developed where splice site mutations are created within the genome to induce exon skipping. Challenges remain as exon-skipping agents can have deleterious non-specific effects and different in-frame deletions show phenotypic variance. This article reviews the state of the art of exon skipping for treating muscular dystrophy and discusses challenges and future prospects.
Transnasal inferior meatal antrostomy is increasingly used for the treatment of post-Caldwell–Luc mucoceles in maxillary sinus. This study aimed to report the outcomes after inferior meatal antrostomy with a mucosal flap for recurrent mucoceles.
The records of patients who had undergone transnasal inferior meatal antrostomy with or without a mucosal flap were reviewed.
Transnasal endoscopic inferior meatal antrostomy with or without a mucosal flap was performed in 21 and 49 patients, respectively. No complications were observed. A closing of the antrostomy was found in 9 (18.4 per cent) of the 49 patients who underwent antrostomy without a mucosal flap. No closings were observed in the 21 patients who underwent antrostomy with a mucosal flap. There was a significant difference in the rate of closing for surgery with and without the mucosal flap.
Transnasal endoscopic inferior meatal antrostomy with a mucosal flap is a safe method for the treatment of post-Caldwell–Luc maxillary mucoceles that effectively prevents recurrence.
Earthquakes have killed around 800,000 people globally in the past 20 years, with head injury being the main cause of mortality and morbidity.
To conduct a systematic review to determine the characteristics of head injuries after earthquakes for better disaster preparedness and management.
All publications related to head injuries and earthquakes were searched using Pubmed, Web of Science, the Cochrane Library, and Ichushi.
Thirty-six articles were included in the analysis. Head injury was the third most common cause of injury among survivors of earthquakes. The most common injury after an earthquake occurred was in the lower extremities (36.2%), followed by the upper extremities (19.9%), head (16.6%), spine (13.3%), chest (11.3%), and abdomen (3.8%). Earthquake-related head injuries were predominantly caused by a blunt strike (79%), and were more frequently associated with soft tissue injury compared to non-earthquake-related head injuries and less frequently with intracranial hemorrhage. The mean age of patients with earthquake-related head injuries was 32.6 years, and 55.1% of sufferers were male. The most common earthquake-related head injury was laceration or contusion (59.2%) while epidural hematoma was most common among inpatients with intracranial hemorrhage after an earthquake (9.5%). Early wound irrigation and debridement and antibiotics administration are needed to decrease the risk of infection. Mortality due to earthquake-related head injuries was 5.6%.
Head injury was the main cause of mortality and morbidity after an earthquake. The characteristics of earthquake-related head injuries differed from those of non-earthquake-related head injuries, including the frequency of multiple injuries, and occurrence of contaminated soft tissue injury and epidural hematoma. This knowledge is important for determining demands for neurosurgery and for adequate management of patients, especially in resource-limited conditions.
We give presentations of the asymptotic expansions of the Kashaev invariant of the knots with 6 crossings. In particular, we show the volume conjecture for these knots, which states that the leading terms of the expansions present the hyperbolic volume and the Chern--Simons invariant of the complements of the knots. As higher coefficients of the expansions, we obtain a new series of invariants of these knots.
A non-trivial part of the proof is to apply the saddle point method to calculate the asymptotic expansion of an integral which presents the Kashaev invariant. A key step of this part is to give a concrete homotopy of the (real 3-dimensional) domain of the integral in ℂ3 in such a way that the boundary of the domain always stays in a certain domain in ℂ3 given by the potential function of the hyperbolic structure.
Although organised haematoma often induces bone thinning and destruction similar to malignant diseases, the aetiology of organised haematoma and the optimal treatment remain unclear. This paper presents the clinical features of individuals with organised haematoma, and describes cases in which a novel modified approach was successfully applied for resection of organised haematoma in the maxillary sinus.
Pre-operative examination data were evaluated retrospectively. Modified transnasal endoscopic medial maxillectomy was employed.
Fourteen patients with organised haematoma were treated. Contrast-enhanced computed tomography showed heterogeneous enhancement in all patients. Eight patients underwent modified transnasal endoscopic medial maxillectomy, without complications such as facial numbness, tooth numbness, facial tingling, lacrimation and eye discharge. Dissection of the apertura piriformis and anterior maxillary wall was not necessary for any of these eight patients. No recurrence was observed.
Pre-operative examinations can be helpful in determining the likelihood of organised haematoma. Modified transnasal endoscopic medial maxillectomy appears to be a safe and effective method for organised haematoma resection.
Animals, including arthropods, are one health threat that can be affected by disasters. This institution-based study aimed to assess trends in Hymenoptera stings following the 2011 Fukushima nuclear disaster.
We reviewed the medical records of patients with hymenopteran stings who visited Minamisoma Municipal General Hospital, located 23 km from Fukushima Daiichi Nuclear Power Plant, from March 2005 to March 2016. Patient and sting characteristics of post-disaster patients were examined, and the annual incidence of hospital visits for hymenopteran stings was compared with the pre-disaster baseline, calculating an incidence rate ratio (IRR) for each year.
We identified 152 pre-disaster patients (2005-2011) and 222 post-disaster patients (2011-2016). In the post-disaster period, 160 males (72.1%) were identified, with a median age of 59 years (range: 2-89 years). A total of 45 patients (20.3%) were decontamination workers. Post-disaster increases were found in the IRR for hymenopteran stings, peaking first in 2011 (IRR: 2.8; 95% confidence interval [CI]: 1.9-4.2) and later in 2014 (IRR: 3.2; 95% CI: 2.4-4.3) and 2015 (IRR 3.3; 95% CI: 2.5-4.4).
Long-term increases were found in the IRR of hospital visits for hymenopteran stings in an institution affected by the Fukushima nuclear disaster. Decontamination workers appear to have been particularly affected by this phenomenon. Better disaster field worker monitoring and education about potential environmental health hazards may help to identify and prevent worker exposure to insect stings and other vectors in these settings. (Disaster Med Public Health Preparedness. 2017;11:545–551)
This paper reports on concentrations and carbon isotopic results of dissolved inorganic carbon (DIC) in water samples collected at four locations and from several depths in Lake Biwa, central Japan, covering every season of the year, starting in the spring of 1995. Depth profiles of DIC concentration and DIC δ13C showed a strong seasonal pattern, as a result of vertical mixing of the lake water in winter and early spring, or lack of mixing in the other seasons. No seasonal change in DIC ∆14C depth profiles was recognizable, mainly owing to the wide scatter of DIC ∆14C. Values typically ranged from 0.47 to 0.65 mmol kg-1 for DIC concentration, and from -4 to -8‰ and from +10 to +80‰ for DIC ∆13C and DIC ∆14C, respectively, for the Lake Biwa water.
Introduction: Emergency Department (ED) fall risk screening has been newly implemented in Alberta based on Accreditation Canada requirements. Two existing inpatient tools failed to include certain ED risk conditions. One tool graded unconsciousness as no risk for falling, and neither considered intoxication or sedation. This led to the development of a new fall risk management screening tool, the FRM (Tool1). This study compared Tool1 with inpatient utilized Schmid Fall Risk Assessment Tool (Tool2) and the validated Hendrich II Fall Risk Model (Tool3). Methods: Patients (≥17 years old) in a tertiary care adult ED with any of the following; history of falling in the last 12 months, elderly/frail, incontinence, impaired gait, mobility assist device, confusion/disorientation, procedural sedation, intoxication/sedated, or unconscious were included. Forms were randomized to score patients using different paired screening tools: Tool1 paired with either Tool2 or Tool3. Percent agreement (PA) between the tools based on identification of a patient at either risk/no risk for falling; higher PA indicating more tool homogeneity. Results: A total of 928 screening forms were completed within our 8-week study period; 452 and 443 comparing Tool1 to Tool2 and Tool1 to Tool3, respectively. Thirty-two forms included only Tool1 scores, excluding them from comparative analysis. The average patient age (n=895) was 64.8±21.4 years. Tool1 identified 66.4% of patients at risk, whereas Tool2 and Tool3 identified only 19.2% and 31.4%, respectively. Tool1 and 2 had a PA of 50.2%, whereas Tool1 and Tool3 had a PA of 65.9%. Conclusion: The FRM tool had higher agreement with the validated assessment tool, identifying patients at risk for falling but better identified patients presenting with intoxication, need for procedural sedation and unconsciousness. The other tools generally miss these common ED conditions, putting these patients at risk. Validation and reliability assessments of the FRM tool are warranted.
Introduction / Innovation Concept: With aging, increasing complexity, and prolonged emergency department (ED) stays, patient falls are an increasing problem. Accreditation Canada recently listed falls risk management (FRM) as a required operational practice (ROP). The University of Alberta ED had no screening tool or education program specific to falls. Gaps in identifying patients with altered consciousness, intoxication, or are undergoing procedural sedation were noted in the Alberta Health Services (AHS) recommended tool. This gap led to the development piloting of an ED specific FRM screening tool. Methods: A literature review was completed to assess current fall assessment tools and their applicability to the ED. No ED specific tools were identified leading to the development of the FRM tool. Prior to the FRM tool being piloted, nursing staff were asked to respond to a voluntary survey on their perceived knowledge of falls management followed by a survey testing their actual knowledge. They were then educated on the FRM and protocol through in-services, power point presentations, and fact sheets. A post education knowledge survey was then sent out. Multidisciplinary working groups provided feedback throughout the pilot, resulting in modifications prior to final implementation. Curriculum, Tool, or Material: The FRM tool consists of 10 variables with a maximum score of 20. Variables included are: falls in the last 12 months? Mechanical (1), Physiological (2), Multiple (3); age ≥70 or frail (2); mobility assist device (1) confusion or disorientation (5); impaired gait (1); incontinence (1); intoxicated (3); procedural sedation (3); and unconscious (5). All except for the last 3 variables were adapted from inpatient risk tools. Patients were categorized as low (1-2 points), moderate (3-4 points), or high risk (5+ points) and those scoring ≥3 had a safety protocol implemented. The survey regarding perceived knowledge for management of falls led to an average score of 86.6% (n=46). When tested on their actual knowledge they scored 48.8% (n=29). Following training on the FRM tool and protocol, the actual knowledge of 18 respondents averaged 83%. Conclusion: The FRM screening tool has been implemented and a comparative study looking at ED risk predictability matched to existing falls risk scores. Based on research findings the FRM will be considered for a provincial implementation.
Quality of life (QOL) has become an important outcome measure in the care of dementia patients. However, there have been few studies focusing on the difference in QOL between different dementias.
Two-hundred seventy-nine consecutive outpatients with Alzheimer's disease (AD), dementia with Lewy bodies (DLB) or frontotemporal dementia (FTD) were recruited. The QOL was evaluated objectively using the QOL Questionnaire for Dementia (QOL-D).The QOL-D comprises six domains: positive affect, negative affect and actions, communication, restlessness, attachment to others, and spontaneity. General cognition, daily activities, and behavioral and psychological symptoms of dementia were also evaluated.
The scores of positive affect of QOL-D of AD patients were significantly higher than those of patients with DLB or FTD (AD 3.1 ± 0.8, DLB 2.6 ± 0.9, FTD 2.6 ± 0.7). The scores of negative affect and action of QOL-D of FTD patients were significantly higher than those of patients with AD or DLB (FTD 2.0 ± 0.8, AD 1.4 ± 0.5, DLB 1.5 ± 0.6). The apathy scores of FTD and DLB patients were significantly higher than those of patients with AD. The disinhibition scores of FTD patients were significantly higher than those of patients with AD or DLB.
The apathy of FTD and DLB patients and depression of DLB patients might affect the lower positive affect of FTD and DLB patients compared to AD patients. The disinhibition of FTD patients might affect the abundance of negative affect & actions in FTD patients compared to AD and DLB patients.
In this article, we review recent research progress on ultraflexible organic thin-film devices and their emerging applications. We describe progress on devices such as organic thin-film transistors, organic photovoltaic cells, and organic light-emitting diodes that are manufactured on ultrathin plastic films with micrometer-scale thicknesses. These ultraflexible organic devices have been utilized to realize new applications, including wearable and biomedical devices.
In spite of researchers’ and practitioners’ increasing attention to data-driven learning (DDL) and increasing numbers of DDL studies, a multi-item scale to measure learners’ attitude toward DDL has not been developed thus far. In the present study, we developed and validated a psychometric scale to measure learners’ perceived preferences and benefits of DDL for research and pedagogical purposes. First, we created an item pool by referring to open-ended responses from learners; second, the items were pilot tested with target-level learners of English as a foreign language; and third, with item analyses and exploratory factor analysis, the revised version of the questionnaire was prepared. Finally, the questionnaire was administered, and its psychometric properties were examined with confirmatory factor analysis and fit indices. The final phase also included a measure of task values to explore the convergent evidence of the construct validity of the proposed scale. The results suggest that the scale is a valid measure of learners’ attitudes toward DDL, with the hypothesized model providing a good fit with the data. We propose that the scale can be used in future studies that utilize the same type of questionnaire research to facilitate further investigation of DDL. Suggestions for further research are also provided.
Indentation deformation of glass under a sharp diamond indenter causes cracking during and after a loading–unloading cycle. To get a deeper insight into the indentation cracking in glass, it is critical to understand the elastic and inelastic deformation behavior of glass under the indenter. In this study, in situ observations during Vickers indentations are carried out for silica, soda-lime, and lead–silicate glasses. It is found that the true contact area during indentation is different from the area estimated from the contact depth and the indenter geometry, and that the ridges of a Vickers indenter affect the contact shape during indentation. The contact region of silicate glasses under a Vickers indenter is not a regular square but a concave square. This results in edge cracking during indentation. It is concluded that the contact shape and the deformation mechanism of glass under the indenter are closely related to its cracking behaviors.
We developed a tunnel-current based identification method by using nano-gap integrated devices. We performed electrical measurements for mono-nucleotide and oligo-nucleotide during its translocation of molecules between the nano-gap. Based on this determined electrical conductivity for single-nucleotides, we electrically identify the base-type in oligonucleotides, and found that this time-profiles represents the molecular translocation behaviors inside nano-gap. This method could be a promising for an electrical nucleotide sequencing methodology with label-free, high-speed, and low-cost.
There are many quality of life (QOL) instruments for evaluating dementia patients. The QOL questionnaire for Dementia (QOL-D) is one of such instruments and a validated objective measure of QOL for patients with dementia. It comprises 31 items encompassing six domains. However, with 31 items, its length is a disadvantage. The purpose of this study was to develop a short version of QOL-D (short QOL-D).
We used data from two studies. The participants were 264 inpatients with dementia in the first sample and 395 outpatients at a memory clinic in the second sample. We used maximum likelihood factor analysis with promax rotation to reduce the number of items.
We produced a nine-item version of QOL-D (short QOL-D) with positive (six items) and negative (three items) dimensions. The correlation coefficients of short and total versions of QOL-D were 0.892–0.918 for total scores, 0.903–0.936 for positive dimension scores, and 0.788–0.837 for negative dimension scores. Total short QOL-D scores showed a significant correlation to the Geriatric Depression Scale score and the apathy score of the Neuropsychiatric Inventory.
The short QOL-D produced results comparable with that of the full version. Reducing the number of items may make administration of the instrument easier.
Depressive symptoms are common in patients with Alzheimer's disease (AD) and increase the caregiver burden, although the etiology and pathologic mechanism of depressive symptoms in AD patients remain unclear. In this study, we tried to clarify the cerebral blood flow (CBF) correlates of subjective depressive symptoms in AD.
Seventy-six consecutive patients with AD were recruited from outpatient units of the Memory Clinic of Okayama University Hospital. Subjective depressive symptoms were evaluated using the short version of the Geriatric Depression Scale (GDS). All patients underwent brain SPECT with 99mTc-ethylcysteinate dimer, and the SPECT images were analyzed by the Statistical Parametric Mapping 8 program.
No significant differences between groups with high and low GDS scores were found with respect to age, sex, years of education, and revised Addenbrooke's Cognitive Examination scores. Compared to patients with low scores on GDS, patients with high scores showed significant hypoperfusion in the left inferior frontal region.
The left inferior frontal region may be significantly involved in the pathogenesis of subjective depressive symptoms in AD. Subjective and objective depressive symptoms may have somewhat different neural substrates in AD.