scholarly journals Decision letter: An internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin in zebrafish

2015 ◽  
Keyword(s):  
Disease Severity ◽  
Internal Promoter ◽  
The Difference

scholarly journals An internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin in zebrafish

eLife ◽  
2015 ◽  
Vol 4 ◽  
Author(s):  
Jun Zou ◽  
Diana Tran ◽  
Mai Baalbaki ◽  
Ling Fung Tang ◽  
Annie Poon ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Disease Severity ◽  
Protein Product ◽  
Dominant Negative ◽  
Precise Position ◽  
Internal Promoter ◽  
Sarcomeric Protein ◽  
Skeletal Myopathy ◽  
The Difference ◽  
Shed Light

Truncating mutations in the giant sarcomeric protein Titin result in dilated cardiomyopathy and skeletal myopathy. The most severely affected dilated cardiomyopathy patients harbor Titin truncations in the C-terminal two-thirds of the protein, suggesting that mutation position might influence disease mechanism. Using CRISPR/Cas9 technology, we generated six zebrafish lines with Titin truncations in the N-terminal and C-terminal regions. Although all exons were constitutive, C-terminal mutations caused severe myopathy whereas N-terminal mutations demonstrated mild phenotypes. Surprisingly, neither mutation type acted as a dominant negative. Instead, we found a conserved internal promoter at the precise position where divergence in disease severity occurs, with the resulting protein product partially rescuing N-terminal truncations. In addition to its clinical implications, our work may shed light on a long-standing mystery regarding the architecture of the sarcomere.

scholarly journals Variety resistance of winter barley to powdery mildew in the field in 1976−2005

2008 ◽  
Vol 43 (No. 3) ◽  
pp. 87-96 ◽  
Author(s):  
A. Dreiseitl
Keyword(s):  
Powdery Mildew ◽  
Disease Severity ◽  
Powdery Mildew Resistance ◽  
Specific Resistance ◽  
Winter Barley ◽  
Mildew Resistance ◽  
Average Resistance ◽  
The Difference ◽  
The Given ◽  
Resistance Of Varieties

The results of evaluation of powdery mildew resistance in winter barley varieties in 285 Czech Official Trials conducted at 20 locations were analysed. Over the period, the number of varieties tested per year increased from four to seven in 1976−1985 to 53−61 in 2002−2005. To assess the resistance of varieties, only trials with sufficient disease severity were used. In 1976−2000, six varieties (1.7% of the varieties tested in the given years) ranked among resistant (average resistance of a variety in a year > 7.5) including NR-468 possessing the gene <i>Mla13</i>, KM-2099 with <i>mlo</i> and Marinka with the genes <i>Mla7</i>, <i>MlaMu2</i>. In 2001−2005, already 33 varieties (16.9%) ranked among resistant, of which Traminer possessing the genes <i>Ml(St)</i> and <i>Ml(IM9 </i> dominated. The proportion of susceptible varieties (average resistance ≤ 5.5) did not change in the two mentioned periods. Two-rowed varieties began to be tested as late as in 1990 (the first variety was Danilo), however, no difference was found in the resistance of two- and six-rowed varieties. Using an example of two pairs of varieties (Dura-Miraj and Marinka-Tiffany) with identical genes for specific resistance but with different resistance in the field, the efficiency of non-specific resistance is discussed. The resistance of domestic and foreign varieties was similar in 1994−2000; however, in 2001−2005 the difference was 0.75 point to disadvantage of domestic ones.

scholarly journals Getting Vaccinated Helps: Prospective Study Reveals Lower CT Severity Scores amongst COVID Vaccine Recipients

2022 ◽  
Author(s):  
Priscilla C. Joshi ◽  
Vandana Jahanvi ◽  
Mangal S. Mahajan ◽  
Nivedita C. Ghule Patil ◽  
Priyankkumar G. Moradiya ◽  
...  
Keyword(s):  
Disease Severity ◽  
Age Groups ◽  
P Value ◽  
Disease Prognosis ◽  
Important Message ◽  
Severity Scores ◽  
Reduce Infection Rate ◽  
The Mean ◽  
The Difference ◽  
The Government

Abstract Context Computerized tomography (CT) is an invaluable imaging investigation for evaluating COVID-19 disease. CT detects early changes of COVID-19 pneumonia and predicts the disease prognosis based on a semiquantitative 25-point CT severity score (CT-SS). India launched its vaccination drive in January 2021 with two different vaccines being approved by the government. These vaccines are believed to prevent the disease itself, in majority of the cases and at least decrease disease severity, in the rest. Aim This study aims to evaluate the CT-SS in vaccinated and non-vaccinated subjects who have been diagnosed with COVID-pneumonia or are COVID suspects. Subjects and Methods A total of 3,235 patients with typical COVID-19 related imaging findings on HRCT thorax were included in the study. These subjects were divided into three age categories, 18–44, 45–59 and ≥60 years. The CT severity scores were allotted by experienced radiologists. Medians of the scores in different age groups were compared amongst vaccinated and non-vaccinated individuals using the Kruskal–Wallis H test. A p-value < 0.05 was considered significant. All results were shown with 95% confidence interval. Results The difference in the medians amongst the vaccinated and non-vaccinated groups was significant, p-values being < 0.001 in all age categories. Conclusion The mean CT-SS was less in vaccinated subjects and the difference in median CT-SS amongst vaccinated and non-vaccinated individuals was statistically significant, thus sending an important message that it is mandatory for the population at large to get vaccinated to reduce infection rate/disease severity.

scholarly journals The use of corticosteroids in patients with chronic obstructive pulmonary disease: epidemiological and economic aspects

2009 ◽  
Vol 10 (4) ◽  
pp. 139-148 ◽  
Author(s):  
Pablo M. Katz ◽  
Valeria Pegoraro
Keyword(s):  
Disease Severity ◽  
Systemic Corticosteroid ◽  
Economic Consequences ◽  
Chronic Obstructive ◽  
Obstructive Pulmonary Disease ◽  
Copd Patients ◽  
Free Treatment ◽  
Inadequate Therapy ◽  
The Difference ◽  
The Cost

Objective: this study aimed at assessing the level of compliance to GOLD guidelines regarding the use of ICS containing drugs for the treatment of patients with COPD in the GPs setting in Italy and at evaluating the economic consequences that the use of corticosteroids may have, specifically in mild and moderate COPD patients where it is inappropriate. Methods: the retrospective GPs database study has analyzed patients with at least one diagnosis of COPD during the period January 2005 – December 2008 who had a report of VEMS and at least one prescription of a drug from ATC R03 class within two months from the date of spirometric exam, who were 40 years or older and that have been followed for at least 9 months. Patients were classified in four disease severity groups according to GOLD (2008). Compliance to GOLD guidelines regarding the use of corticosteroids was evaluated on the basis of the first treatment prescribed after spirometric exam. The analysis evaluated exacerbations as well, assuming their occurrence when one prescription of either antibiotic, oxygen or systemic corticosteroid was found. The cost of the first prescription of treatments containing ICS in mild and moderate patients was calculated. Then the “Hypothetic cost” was built for those patients in order to estimate the cost that would have been created in case the considered treatments had been ICS free. The difference between these two costs represents inappropriate cost that could have been avoided by using an ICS free treatment, more appropriate according to GOLD. Results: a cohort of 2,103 Italian patients with the diagnosis of COPD, followed by 700 GPs all over Italy was analyzed. An ICS-containing treatment was prescribed to more than 50% of patients within each disease severity group. The percentage of patients who experienced an exacerbation within 6 months from the first prescription was not found to be different among patients prescribed with an ICS-free treatment and those treated with an ICS-containing treatment and was independent of the disease severity. In mild and moderate COPD patients respectively, 53% and 48% of the cost generated by the ICS containing prescriptions represent the inappropriate cost for the Health Care System. Moreover, patients are unnecessarily exposed to the risk of inadequate therapy.


scholarly journals Predictors of Gait Speeds and the Relationship of Gait Speeds to Falls in Men and Women with Parkinson Disease

2013 ◽  
Vol 2013 ◽  
pp. 1-8 ◽  
Author(s):  
Samuel T. Nemanich ◽  
Ryan P. Duncan ◽  
Leland E. Dibble ◽  
James T. Cavanaugh ◽  
Terry D. Ellis ◽  
...  
Keyword(s):  
Parkinson Disease ◽  
Disease Severity ◽  
Gait Speed ◽  
Balance Confidence ◽  
The Difference ◽  
Walking Speeds ◽  
Relationship Of ◽  
The Relationship ◽  
Insight Into

Gait difficulties and falls are commonly reported in people with Parkinson disease (PD). Reduction in gait speed is a major characteristic of Parkinsonian gait, yet little is known about its underlying determinants, its ability to reflect an internal reservation about walking, or its relationship to falls. To study these issues, we selected age, disease severity, and nonmotor factors (i.e., depression, quality of life, balance confidence, and exercise beliefs and attitudes) to predict self-selected (SELF), fast-as-possible (FAST), and the difference (DIFF) between these walking speeds in 78 individuals with PD. We also examined gender differences in gait speeds and evaluated how gait speeds were related to a retrospective fall report. Age, disease severity, and balance confidence were strong predictors of SELF, FAST, and, to a lesser extent, DIFF. All three parameters were strongly associated with falling. DIFF was significantly greater in men compared to women and was significantly associated with male but not female fallers. The results supported the clinical utility of using a suite of gait speed parameters to provide insight into the gait difficulties and differentiating between fallers in people with PD.

scholarly journals Assessing the Accuracy of Simulation Model for Septoria Leaf Blotch Disease Progress on Winter Wheat

Plant Disease ◽  
2009 ◽  
Vol 93 (10) ◽  
pp. 983-992 ◽  
Author(s):  
M. El Jarroudi ◽  
P. Delfosse ◽  
H. Maraite ◽  
L. Hoffmann ◽  
B. Tychon
Keyword(s):  
Winter Wheat ◽  
Disease Severity ◽  
Statistical Tests ◽  
Mechanistic Model ◽  
Probability Of Detection ◽  
Septoria Tritici ◽  
Septoria Leaf Blotch ◽  
Leaf Blotch ◽  
Disease Occurrence ◽  
The Difference

A mechanistic model, PROCULTURE, for assessing the development of each of the last five leaf layers and the progress of Septoria leaf blotch, caused by Septoria tritici (teleomorph Mycosphaerella graminicola), has been applied on susceptible and weakly susceptible winter wheat (Triticum aestivum) cultivars in two locations (Everlange and Reuland) in Luxembourg over a 3-year period (2000 to 2002). A double performance assessment of PROCULTURE was conducted in this study. First, the capability of PROCULTURE to correctly simulate S. tritici incidence was checked. Second, the model's ability to accurately estimate disease severity was assessed on the basis of the difference between simulated and observed levels of disease development at each leaf layer. The model accurately predicted disease occurrence in the 2000 and 2002 seasons, on susceptible and semi-susceptible cultivars, with a probability of detection (POD) exceeding 0.90. However, in 2001, even though the POD never fell below 0.90, the false alarm ratio (FAR) was too high to consider the simulations satisfactory. Concerning the evaluation of disease severity modeling, statistical tests revealed accurate simulations performed by PROCULTURE for susceptible cultivars in 2000 and 2002. By contrast, for weakly susceptible cultivars, the model overestimated disease severity, especially for the upper leaves, for the same period.

scholarly journals The Adverse Impact of the COVID-19 Pandemic on Abdominal Emergencies: A Retrospective Clinico-Pathological Analysis

2021 ◽  
Vol 10 (22) ◽  
pp. 5254
Author(s):  
Elena Vissio ◽  
Enrico Costantino Falco ◽  
Gitana Scozzari ◽  
Antonio Scarmozzino ◽  
Do An Andrea Trinh ◽  
...  
Keyword(s):  
Disease Severity ◽  
Primary Outcome ◽  
Outcome Measure ◽  
Primary Outcome Measure ◽  
Significant Drop ◽  
Abdominal Emergencies ◽  
The Difference ◽  
Pathological Disease ◽  
And Control ◽  
First Time

The COVID-19 pandemic has caused a worldwide significant drop of admissions to the emergency department (ED). The aim of the study was to retrospectively investigate the pandemic impact on ED admissions, management, and severity of three abdominal emergencies (appendicitis, diverticulitis, and cholecystitis) during the COVID-19 pandemic using 2017–2019 data as a control. The difference in clinical and pathological disease severity was the primary outcome measure while differences in (i) ED admissions, (ii) triage urgency codes, and (iii) surgical rates were the second ones. Overall, ED admissions for the selected conditions decreased by 34.9% during the pandemic (control: 996, 2020: 648) and lower triage urgency codes were assigned for cholecystitis (control: 170/556, 2020: 66/356, p < 0.001) and appendicitis (control: 40/178, 2020: 21/157, p = 0.031). Less surgical procedures were performed in 2020 (control: 447, 2020: 309), but the surgical rate was stable (47.7% in 2020 vs. 44.8% in 2017–2019). Considering the clinical and pathological assessments, a higher percentage of severe cases was observed in the four pandemic peak months of 2020 (control: 98/192, 2020: 87/109; p < 0.001 and control: 105/192, 2020: 87/109; p < 0.001). For the first time in this study, pathological findings objectively demonstrated an increased disease severity of the analyzed conditions during the early COVID-19 pandemic.

scholarly journals Treatment of difficult-to-treat-dermatophytosis: results of a randomized, double-blind, placebo-controlled study

2021 ◽  
Vol 15 (11) ◽  
pp. 1731-1737
Author(s):  
Sanjeewani Fonseka ◽  
Dilan Dileepa Jayarathne Bandara ◽  
Dasun Chathumina Wickramaarachchi ◽  
Narankotuwe Gedara Kumudu Hasanka Heshani Narankotuwa ◽  
Pallegoda Vithana Ranjith Kumarasiri
Keyword(s):  
Surface Area ◽  
Disease Severity ◽  
Clinical Assessment ◽  
Controlled Trial ◽  
Public Health Problem ◽  
Total Surface Area ◽  
Controlled Study ◽  
Double Blind ◽  
The Difference ◽  
Patient’S Perception

Introduction: Difficult-to-treat dermatophytosis is an emerging public health problem in Sri Lanka. Safe, effective and affordable treatment is needed to solve this problem. Therefore this study has assessed the effectiveness and safety of modified Whitfield ointment applied twice daily with oral griseofulvin 500 mg daily given over 8 weeks in patients with difficult-to-treat dermatophytosis. Methodology: A randomized, double-blind, within-patient-placebo-controlled trial was conducted in patients with clinico- mycologically (history, physical examination, direct light microscopy examination of scales in potassium hydroxide mount) confirmed difficult-to-treat dermatophytosis. Lesions were randomized to receive modified Whitfield ointment (5% benzoic acid and 5% salicylic acid) or emulsifying ointment. All patients were given oral griseofulvin 500mg once daily. The outcome measures were clinical assessment of disease severity, the total surface area of the lesions and the patient’s perception of the disease severity at baseline and every two weeks up to a maximum of 8 weeks. Results: Thirty patients completed the study. At two weeks, there was a statistically significant improvement in modified Whitfield ointment arm in the clinical assessment of disease severity and the patients' perception. There was a 7.59% reduction in the surface area of lesions in modified Whitfield ointment arm and a 5.83% increase in the surface area of lesions in the emulsifying ointment arm at two weeks. The difference between the two arms in surface area changes was not statistically significant (p = 0.107, df = 29). Conclusions: A combination of modified Whitfield ointment with griseofulvin is significantly effective, safe and affordable option for treating difficult-to-treat dermatophytosis in the tropics.

scholarly journals Evaluation of Risk Factors for Exacerbations in Children with Adenoviral Pneumonia

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Na Xu ◽  
Peng Chen ◽  
Ying Wang
Keyword(s):  
Risk Factors ◽  
Disease Severity ◽  
Clinical Manifestations ◽  
Severe Pneumonia ◽  
Clinical Implications ◽  
Laboratory Findings ◽  
Severe Group ◽  
Adenovirus Pneumonia ◽  
The Difference ◽  
D Dimer

Purpose. The aim of this work was to analyze clinical features and laboratory findings of children with adenovirus pneumonia and guide clinical diagnosis, treatment, and assessment of disease severity. Material and Methods. Retrospective analysis of clinical data of 285 children with adenoviral pneumonia who were hospitalized in Wuhan Children’s Hospital from December 2018 to October 2019. According to the assessment criteria for severe pneumonia, it was divided into the severe group (92 cases) and the nonsevere group (193 cases). Collected clinical manifestations, complications, and laboratory test indicators in two groups of children and conducted all statistical analyses. Results. The risk of fever and wheezing was significantly higher in the severe group than in the nonsevere group. The difference was statistically significant (P<0.05). The risk of complications in the severe group was significantly higher than that in the nonsevere group. The difference was statistically significant (P<0.05). The levels of AST, LDH-L, PCT, ferritin, and D-dimer in the severe group were significantly higher than those in the nonsevere group. The difference was statistically significant (P<0.05). Conclusion. Children with severe adenovirus pneumonia have severe clinical manifestations and many complications. AST, LDH-L, PCT, ferritin, and D-dimer levels have important clinical implications for assessing disease severity.

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