A Review of Some of the Rheumatological Problems and Engineering Capabilities

1987 ◽  
Vol 16 (4) ◽  
pp. 191-193
Author(s):  
H A Bird
Keyword(s):  
Musculoskeletal System ◽  
Response To Treatment ◽  
Functional Evaluation ◽  
Loss Of Function ◽  
The United Kingdom ◽  
Joint Pathology ◽  
Wide Range ◽  
Repetitive Stress ◽  
The Individual ◽  
Cardinal Symptoms

Up to 150 different diseases can affect the joints and musculoskeletal system. These range from musculoskeletal rheumatism, which is self-limiting and causes no demonstrable joint pathology, through metabolic and degenerative joint diseases to the chronic auto-immune disorders of inflammation of which rheumatoid arthritis is the most common in the United Kingdom, and the most severe. Many of these conditions are characterised by inflammation which has the cardinal symptoms of heat, swelling, pain, erythema, and loss of function. Rheumatologists require accurate and objective methods of measuring all these parameters at a large number of joints, each of different anatomical structure, in order to adequately monitor the course of the disease and its response to treatment. Complementary information is required on the function of muscles, ligaments, tendons, and bone, as well as the joints. Although the individual analysis of each of these components is likely to provide the most information on disease pathogenesis, functional evaluation which integrates many of these variables simultaneously is likely to provide most information on the patient's progress. Both are needed. In the realm of therapeutics, a wide range of prostheses, all of sound bioengineering design, are available. Greater problems arise in the matching of different prostheses to an individual patients needs and in their fixation in a patient whose disease is constantly altering the joint contour. The attention of bioengineers is now being directed towards the design of replacements for other parts of the joint and musculoskeletal system, for example, ligaments. Adequate methods of testing these under repetitive stress and of measuring the improvement they provide will be increasingly required.

scholarly journals Inefficient Neural Self-Stabilization: A theory of spontaneous resolutions and recurrent relapses in psychosis

2018 ◽  
Author(s):  
Lena Palaniyappan
Keyword(s):  
General Population ◽  
The Other ◽  
Response To Treatment ◽  
Marked Variation ◽  
Treatment Frequency ◽  
Functional Consequence ◽  
Systems Neuroscience ◽  
Individual Variations ◽  
Wide Range ◽  
The Individual

A striking feature of psychosis is the heterogeneity of the phenomenon.Presentations of psychosis vary from transient symptoms with no functional consequence in the general population to a tenacious illness on the other extreme, with a wide range of variable trajectories in between. Even among patients with schizophrenia, who are diagnosed on the basis of persistent deterioration, marked variation is seen in response to treatment, frequency of relapses and degree of eventual recovery. Existing theoretical accounts of psychosis almost exclusively focus on how symptoms are initially formed, with much less emphasis on explaining their variable course. In this review, I present an account that links several existing notions on the biology of psychosis with the variant clinical trajectories. My aim is to incorporate perspectives of systems neuroscience in a staging framework to explain the individual variations in illness course that follows the onset of psychosis.

Introduction: the comprehensive approach

2016 ◽  
Author(s):  
Michael Doherty ◽  
Johannes Bijlsma ◽  
Nigel Arden ◽  
David J. Hunter ◽  
Nicola Dalbeth
Keyword(s):  
Illness Perceptions ◽  
Response To Treatment ◽  
Predictors Of Response ◽  
Wide Range ◽  
Mechanical Factors ◽  
Inflammatory Drugs ◽  
The Individual ◽  
The Impact

This introductory chapter to the section on management of osteoarthritis (OA) emphasizes the need for a full assessment of the patient, not just in terms of joint symptoms and examination findings but a full holistic assessment of the person, including the impact of OA on their life, their illness perceptions of OA, and the presence of comorbidities. An individualized package of care can then be developed. Patients should be fully informed about OA and fully involved in all management decisions. Apart from education, which is an ongoing not one-off process, other core treatments to be considered in every person with OA are exercise (both strengthening and aerobic) and strategies to reduce adverse mechanical factors, including weight loss if overweight or obese. Topical non-steroidal anti-inflammatory drugs are the safest analgesic drug to try first for peripheral joint OA. Other treatments can be selected as required from a wide range of drug and non-pharmacological options, to address the needs of the individual. The patient requires regular follow-up for reassessment and re-adjustment of management as required. Currently there are sparse data on predictors of response to treatment, limiting a stratified medicine approach. Caveats to the research evidence for OA and its transition to clinical practice are discussed, and one way of improving this (reporting overall treatment effect and the proportion attributable to placebo in clinical trials) is presented. Optimizing contextual effects, which are an integral part of any treatment and which may explain the majority of improvement that a patient experiences for their OA, is emphasized as a key aspect of care.

The Spectrum of KCNQ2- and KCNQ3-Related Epilepsy

2021 ◽  
Author(s):  
Anna Portale ◽  
Mattia Comella ◽  
Giulia Salomone ◽  
Alessandra Di Nora ◽  
Lidia Marino ◽  
...  
Keyword(s):  
De Novo ◽  
Epileptic Encephalopathy ◽  
Response To Treatment ◽  
Psychomotor Development ◽  
K Channel ◽  
Loss Of Function ◽  
M Current ◽  
Wide Range ◽  
Cortical Visual Impairment ◽  
Infantile Epilepsy

Abstract KCNQ genes encode for a family of six transmembrane domains, single pore-loop, and K+ channel α-subunits that have a wide range of physiological correlates. In the brain, KCNQ2 and KCNQ3 heteromultimers are thought to underlie the M-current which is essential in raising the threshold for firing an action potential; mutations in these genes may cause several types of infantile epilepsies. KCNQ2-related disorders represent a continuum of overlapping neonatal epileptic phenotypes that range from KCNQ2 benign familial neonatal epilepsy (BFNE), a seizure disorder that occur in children who typically have a normal psychomotor development and are inherited as an autosomal dominant trait, to KCNQ2 early-onset epileptic encephalopathy (EOEE) as the result of a de novo pathogenic variant. KCNQ3-related disorders are rarer and include BFNE, benign familial infantile epilepsy and KCNQ3-related epileptic encephalopathy with intellectual disability with or without seizures and/or cortical visual impairment. For both KCNQ2- and KCNQ3-related disorders, it is possible to use several drugs for different classes of mutations (i.e., gain of function vs. loss of function), and usually their effects vary in relation to the clinical presentation and the phenotype of the patient. However, KCNQ2-EOEE patients have a worse response to treatment than KCNQ2-BFNE patients and usually become drug resistant with multiple daily seizures.

scholarly journals Inefficient Neural Self-Stabilization: A theory of spontaneous resolutions and recurrent relapses in psychosis

2018 ◽  
Author(s):  
Lena Palaniyappan
Keyword(s):  
General Population ◽  
The Other ◽  
Response To Treatment ◽  
Marked Variation ◽  
Treatment Frequency ◽  
Functional Consequence ◽  
Systems Neuroscience ◽  
Individual Variations ◽  
Wide Range ◽  
The Individual

A striking feature of psychosis is the heterogeneity of the phenomenon.Presentations of psychosis vary from transient symptoms with no functional consequence in the general population to a tenacious illness on the other extreme, with a wide range of variable trajectories in between. Even among patients with schizophrenia, who are diagnosed on the basis of persistent deterioration, marked variation is seen in response to treatment, frequency of relapses and degree of eventual recovery. Existing theoretical accounts of psychosis almost exclusively focus on how symptoms are initially formed, with much less emphasis on explaining their variable course. In this review, I present an account that links several existing notions on the biology of psychosis with the variant clinical trajectories. My aim is to incorporate perspectives of systems neuroscience in a staging framework to explain the individual variations in illness course that follows the onset of psychosis.

PTEN-deficient breast cancer in neoadjuvant treatment.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. 1125-1125
Author(s):  
Juan de la Haba-Rodriguez ◽  
Cano M ◽  
Rangal Y ◽  
Morales Cristina ◽  
Fuentes E ◽  
...  
Keyword(s):  
Ductal Carcinoma ◽  
Neoadjuvant Treatment ◽  
Staining Intensity ◽  
Membrane Lipid ◽  
Tumour Suppressor Gene ◽  
Pten Expression ◽  
Response To Treatment ◽  
Loss Of Function ◽  
Normal Breast Epithelium ◽  
Wide Range

1125 Background: Loss of function mutations in the tumour suppressor gene PTEN or lack of PTEN expression have both been observed in a wide range of human tumours. PTEN encodes a phosphatase, whose activity antagonizes PI3 kinase signal pathway by dephosphorylation the plasma membrane lipid, phosphoinositide-3,4,5-trisphosphate (PIP3). Loss of PTEN phosphatase activity is thought to foster tumorigenesis, at least in part, by causing downstream constitutive activation of AKT. In addition to this role, PTEN has been suggested to have a nuclear function in maintaining genomic stability[2]. Our proposal is to identify those tumours without expression of PTEN, their characteristics and response to treatment. Methods: We have studied PTEN expression by immunohistochemistry in tumours samples from 86 patients treated with neoadjuvant treatment. Normal breast epithelium or vascular endothelium were used as positive control. PTEN was evaluated by inmunoreactive stain score, taking into account staining intensity and percentage of positive cells, PTEN deficiency (PTEN -) has been stablished by a IRS=0[1]. We analyzed the PTEN localization (nuclear vs citoplasmatic). Results: In our serie, 38 (44.2%) of the tumours samples were PTEN deficient. Taking into account as reference PTEN + tumours, we have found that PTEN deficient tumours are more frequently; ductal carcinoma (94.2% vs 81.8%), G3 (72% vs 48.7%), ER negative (47% vs 30.4%), Triple negative (24.2% vs 15%) and higher Ki67 expression (>20%) in the 100% of PTEN deficient tumours. The pathological rate response was PTEN -:18.4% vs PTEN +:19.1% p:ns, and the recurrence rate was higher in PTEN- (26,3% vs 8,3%) p:0.025. Conclusions: The PTEN deficient breast tumours is associated to more histological aggressive profile, and we have not found relations with the pathological rate response to neoadjuvant treatment.

THE VALUE OF LOVE IN THE SYSTEM OF FORMATION OF THE PROFESSIONAL MATURITY OF THE EDUCATOR

2020 ◽  
Vol 1 (10(79)) ◽  
pp. 12-18
Author(s):  
G. Bubyreva
Keyword(s):  
Russian Federation ◽  
The State ◽  
Educational Process ◽  
Wide Range ◽  
The Family ◽  
The Russian Federation ◽  
The Government ◽  
The Individual ◽  
The Right

The existing legislation determines the education as "an integral and focused process of teaching and upbringing, which represents a socially important value and shall be implemented so as to meet the interests of the individual, the family, the society and the state". However, even in this part, the meaning of the notion ‘socially significant benefit is not specified and allows for a wide range of interpretation [2]. Yet the more inconcrete is the answer to the question – "who and how should determine the interests of the individual, the family and even the state?" The national doctrine of education in the Russian Federation, which determined the goals of teaching and upbringing, the ways to attain them by means of the state policy regulating the field of education, the target achievements of the development of the educational system for the period up to 2025, approved by the Decree of the Government of the Russian Federation of October 4, 2000 #751, was abrogated by the Decree of the Government of the Russian Federation of March 29, 2014 #245 [7]. The new doctrine has not been developed so far. The RAE Academician A.B. Khutorsky believes that the absence of the national doctrine of education presents a threat to national security and a violation of the right of citizens to quality education. Accordingly, the teacher has to solve the problem of achieving the harmony of interests of the individual, the family, the society and the government on their own, which, however, judging by the officially published results, is the task that exceeds the abilities of the participants of the educational process.  The particular concern about the results of the patriotic upbringing served as a basis for the legislative initiative of the RF President V. V. Putin, who introduced the project of an amendment to the Law of RF "About Education of the Russian Federation" to the State Duma in 2020, regarding the quality of patriotic upbringing [3]. Patriotism, considered by the President of RF V. V. Putin as the only possible idea to unite the nation is "THE FEELING OF LOVE OF THE MOTHERLAND" and the readiness for every sacrifice and heroic deed for the sake of the interests of your Motherland. However, the practicing educators experience shortfalls in efficient methodologies of patriotic upbringing, which should let them bring up citizens, loving their Motherland more than themselves. The article is dedicated to solution to this problem based on the Value-sense paradigm of upbringing educational dynasty of the Kurbatovs [15].

Punk as Folk: Continuities and Tensions in the UK and Beyond

2020 ◽  
Author(s):  
Pete Dale
Keyword(s):  
Folk Music ◽  
Music Making ◽  
Collective Creativity ◽  
Living Tradition ◽  
Wide Range ◽  
The Us ◽  
The Common ◽  
The Individual ◽  
The Uk

Numerous claims have been made by a wide range of commentators that punk is somehow “a folk music” of some kind. Doubtless there are several continuities. Indeed, both tend to encourage amateur music-making, both often have affiliations with the Left, and both emerge at least partly from a collective/anti-competitive approach to music-making. However, there are also significant tensions between punk and folk as ideas/ideals and as applied in practice. Most obviously, punk makes claims to a “year zero” creativity (despite inevitably offering re-presentation of at least some existing elements in every instance), whereas folk music is supposed to carry forward a tradition (which, thankfully, is more recognized in recent decades as a subject-to-change “living tradition” than was the case in folk’s more purist periods). Politically, meanwhile, postwar folk has tended more toward a socialist and/or Marxist orientation, both in the US and UK, whereas punk has at least rhetorically claimed to be in favor of “anarchy” (in the UK, in particular). Collective creativity and competitive tendencies also differ between the two (perceived) genre areas. Although the folk scene’s “floor singer” tradition offers a dispersal of expressive opportunity comparable in some ways to the “anyone can do it” idea that gets associated with punk, the creative expectation of the individual within the group differs between the two. Punk has some similarities to folk, then, but there are tensions, too, and these are well worth examining if one is serious about testing out the common claim, in both folk and punk, that “anyone can do it.”

scholarly journals A Mild Phenotype Caused by Two Novel Compound Heterozygous Mutations in CEP290

Genes ◽  
2020 ◽  
Vol 11 (11) ◽  
pp. 1240
Author(s):  
Agnieszka Rafalska ◽  
Anna M. Tracewska ◽  
Anna Turno-Kręcicka ◽  
Milena J. Szafraniec ◽  
Marta Misiuk-Hojło
Keyword(s):  
Vision Loss ◽  
Compound Heterozygous ◽  
Loss Of Function ◽  
Mild Phenotype ◽  
Cone Function ◽  
Retinal Disorders ◽  
Molecular Inversion Probes ◽  
Disease Experience ◽  
The Individual ◽  
Inherited Retinal Disorders

CEP290 is a ciliary gene frequently mutated in ciliopathies, resulting in a broad range of phenotypes, ranging from isolated inherited retinal disorders (IRDs) to severe or lethal syndromes with multisystemic involvement. Patients with non-syndromic CEP290-linked disease experience profound and early vision loss due to cone-rod dystrophy, as in Leber congenital amaurosis. In this case report, we describe two novel loss-of-function heterozygous alterations in the CEP290 gene, discovered in a patient suffering from retinitis pigmentosa using massive parallel sequencing of a molecular inversion probes library constructed for 108 genes involved in IRDs. A milder phenotype than expected was found in the individual, which serves to prove that some CEP290-associated disorders may display preserved cone function.

scholarly journals The OsERF115/AP2EREBP110 Transcription Factor Is Involved in the Multiple Stress Tolerance to Heat and Drought in Rice Plants

2021 ◽  
Vol 22 (13) ◽  
pp. 7181
Author(s):  
Seong-Im Park ◽  
Hyeok Jin Kwon ◽  
Mi Hyeon Cho ◽  
Ji Sun Song ◽  
Beom-Gi Kim ◽  
...  
Keyword(s):  
Stress Tolerance ◽  
Transcriptional Activation ◽  
Individual Plant ◽  
Hormone Signaling ◽  
Combined Stress ◽  
Drought Treatment ◽  
Wide Range ◽  
The Individual ◽  
Potential Use ◽  
Multiple Stress Tolerance

The AP2/EREBP family transcription factors play important roles in a wide range of stress tolerance and hormone signaling. In this study, a heat-inducible rice ERF gene was isolated and functionally characterized. The OsERF115/AP2EREBP110 was categorized to Group-IIIc of the rice AP2/EREBP family and strongly induced by heat and drought treatment. The OsERF115/AP2EREBP110 protein targeted to nuclei and suppressed the ABA-induced transcriptional activation of Rab16A promoter in rice protoplasts. Overexpression of OsERF115/AP2EREBP110 enhanced thermotolerance of seeds and vegetative growth stage plants. The OsERF115/AP2EREBP110 overexpressing (OE) plants exhibited higher proline level and increased expression of a proline biosynthesis P5CS1 gene. Phenotyping of water use dynamics of the individual plant indicates that the OsERF115/AP2EREBP110-OE plant exhibited better water saving traits under heat and drought combined stress. Our combined results suggest the potential use of OsERF115/AP2EREBP110 as a candidate gene for genetic engineering approaches to develop heat and drought stress-tolerant crops.

Development and Validation of a New Scoring Tool to Evaluate the Clinical Evolution of Adult Patients with Nonsegmental Vitiligo

Dermatology ◽  
2021 ◽  
pp. 1-9
Author(s):  
María Luisa Peralta-Pedrero ◽  
Denisse Herrera-Bringas ◽  
Karla Samantha Torres-González ◽  
Martha Alejandra Morales-Sánchez ◽  
Fermín Jurado Santa-Cruz ◽  
...  
Keyword(s):  
Body Surface ◽  
Task Force ◽  
Intraclass Correlation ◽  
The Body ◽  
Response To Treatment ◽  
Similar Response ◽  
Clinical Evolution ◽  
Wide Range ◽  
Patient Reported ◽  
Extreme Groups

<b><i>Background:</i></b> Vitiligo has an unpredictable course and a variable response to treatment. Furthermore, the improvement of some vitiligo lesions cannot be considered a guarantee of a similar response to the other lesions. Instruments for patient-reported outcome measures (PROM) can be an alternative to measure complex constructions such as clinical evolution. <b><i>Objective:</i></b> The aim of this study was to validate a PROM that allows to measure the clinical evolution of patients with nonsegmental vitiligo in a simple but standardized way that serves to gather information for a better understanding of the disease. <b><i>Methods:</i></b> The instrument was created through expert consensus and patient participation. For the validation study, a prospective cohort design was performed. The body surface area affected was measured with the Vitiligo Extension Score (VES), the extension, the stage, and the spread by the evaluation of the Vitiligo European Task Force assessment (VETFa). Reliability was determined with test-retest, construct validity through hypothesis testing, discriminative capacity with extreme groups, and response capacity by comparing initial and final measurements. <b><i>Results:</i></b> Eighteen semi-structured interviews and 7 cognitive interviews were conducted, and 4 dermatologists were consulted. The instrument Clinical Evolution-Vitiligo (CV-6) was answered by 119 patients with a minimum of primary schooling. A wide range was observed in the affected body surface; incident and prevalent cases were included. The average time to answer the CV-6 was 3.08 ± 0.58 min. In the test-retest (<i>n</i> = 53), an intraclass correlation coefficient was obtained: 0.896 (95% CI 0.82–0.94; <i>p</i> &#x3c; 0.001). In extreme groups, the mean score was 2 (2–3) and 5 (4–6); <i>p</i> &#x3c; 0.001. The initial CV-6 score was different from the final one and the change was verified with VES and VETFa (<i>p</i> &#x3c; 0.05, <i>n</i> = 92). <b><i>Conclusions:</i></b> The CV-6 instrument allows patient collaboration, it is simple and brief, and it makes it easier for the doctor to focus attention on injuries that present changes at the time of medical consultation.

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