Bone Dysplasias

2018 ◽  
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Bone Density ◽  
Clinical Features ◽  
Differential Diagnoses ◽  
Short List ◽  
Age Related ◽  
Bone Dysplasias ◽  
Text Presentation ◽  
Skeletal Disorders

This is a unique atlas presenting age-related radiographs on more than 250 rare constitutional skeletal diseases (dysplasias, dysostoses, osteolyses, disorders of bone density, and more) focusing on diagnostically essential radiographic and clinical features. Each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. A major advantage is the systematic conformation of chapters, sparing the reader a cumbersome read-through of longer text. Presentation in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders.

scholarly journals A novel diabetes typology: towards precision diabetology from pathogenesis to treatment

Diabetologia ◽  
2022 ◽  
Author(s):  
Christian Herder ◽  
Michael Roden
Keyword(s):  
Clinical Features ◽  
Autoimmune Diabetes ◽  
Routine Care ◽  
Insulin Resistant ◽  
Open Questions ◽  
Age Related ◽  
The Stability ◽  
Mild Obesity ◽  
Insight Into

AbstractThe current classification of diabetes, based on hyperglycaemia, islet-directed antibodies and some insufficiently defined clinical features, does not reflect differences in aetiological mechanisms and in the clinical course of people with diabetes. This review discusses evidence from recent studies addressing the complexity of diabetes by proposing novel subgroups (subtypes) of diabetes. The most widely replicated and validated approach identified, in addition to severe autoimmune diabetes, four subgroups designated severe insulin-deficient diabetes, severe insulin-resistant diabetes, mild obesity-related diabetes and mild age-related diabetes subgroups. These subgroups display distinct patterns of clinical features, disease progression and onset of comorbidities and complications, with severe insulin-resistant diabetes showing the highest risk for cardiovascular, kidney and fatty liver diseases. While it has been suggested that people in these subgroups would benefit from stratified treatments, RCTs are required to assess the clinical utility of any reclassification effort. Several methodological and practical issues also need further study: the statistical approach used to define subgroups and derive recommendations for diabetes care; the stability of subgroups over time; the optimal dataset (e.g. phenotypic vs genotypic) for reclassification; the transethnic generalisability of findings; and the applicability in clinical routine care. Despite these open questions, the concept of a new classification of diabetes has already allowed researchers to gain more insight into the colourful picture of diabetes and has stimulated progress in this field so that precision diabetology may become reality in the future. Graphical abstract

Age related macular degeneration (ARMD) – pathophysiological and clinical features and therapeutic concepts

2001 ◽  
Vol 58 (1) ◽  
pp. 28-35 ◽  
Author(s):  
Ursula Körner-Stiefbold
Keyword(s):  
Macular Degeneration ◽  
Clinical Features ◽  
Altersbedingte Makuladegeneration ◽  
Age Related Macular Degeneration ◽  
Genetische Faktoren ◽  
Age Related ◽  
Therapeutic Concepts

Die altersbedingte Makuladegeneration (AMD) ist eine der häufigsten Ursachen für einen irreversiblen Visusverlust bei Patienten über 65 Jahre. Nahezu 30% der über 75-Jährigen sind von einer AMD betroffen. Trotz neuer Erkenntnisse in der Grundlagenforschung ist die Ätiologie, zu der auch genetische Faktoren gehören, noch nicht völlig geklärt. Aus diesem Grund sind die Behandlungsmöglichkeiten zum jetzigen Zeitpunkt noch limitiert, so dass man lediglich von Therapieansätzen sprechen kann. Die derzeit zur Verfügung stehenden Möglichkeiten wie medikamentöse, chirurgische und laser- und strahlentherapeutische Maßnahmen werden beschrieben.

scholarly journals Epileptic Encephalopathies: An Overview

2012 ◽  
Vol 2012 ◽  
pp. 1-8 ◽  
Author(s):  
Sonia Khan ◽  
Raidah Al Baradie
Keyword(s):  
Slow Wave Sleep ◽  
Epileptic Encephalopathy ◽  
Dravet Syndrome ◽  
Management Options ◽  
Epileptic Encephalopathies ◽  
Age Related ◽  
Ohtahara Syndrome ◽  
Cerebral Dysfunction ◽  
Epileptic Syndromes

Epileptic encephalopathies are an epileptic condition characterized by epileptiform abnormalities associated with progressive cerebral dysfunction. In the classification of the International League Against Epilepsy eight age-related epileptic encephalopathy syndromes are recognized. These syndromes include early myoclonic encephalopathy and Ohtahara syndrome in the neonatal period, West syndrome and Dravet syndrome in infancy, myoclonic status in nonprogressive encephalopathies, and Lennox-Gastaut syndrome, Landau-Kleffner syndrome, and epilepsy with continuous spike waves during slow wave sleep in childhood and adolescences. Other epileptic syndromes such as migrating partial seizures in infancy and severe epilepsy with multiple independent spike foci may be reasonably added. In this paper, we provide an overview of epileptic encephalopathies including clinical neurophysiological features, cognitive deterioration, and management options especially that these conditions are generally refractory to standard antiepileptic drugs.

scholarly journals Aesthetic Medicine

2019 ◽  
Vol 4 (5) ◽  
Keyword(s):  
Muscle Tone ◽  
Upper Eyelid ◽  
Aesthetic Medicine ◽  
Age Related ◽  
The Face ◽  
Injection Techniques ◽  
Physiological Type ◽  
Age Related Changes ◽  
Morph Type

GalynaViktorovnaKhrushch plastic surgeon, maxillofacial surgeon, international candidat ASPS, Periorbital area is worthily considered as one of the most complicated regions in terms of correction of the age-related changes using injection techniques of medical aesthetics. According to the classification of I.I. Kolgunenko Russian (1974), tired morph type of age-related changes which is the most physiological type of aging, incorporates changes mainly focused in the middle third of the face, including in the periorbital area. These changes include the formation of grooves (tear trough, palpebromalar groove, nasojugal groove) (Figure 1), dark under-eye circles, mimic wrinkles formation, fat compartment displacement, change in mimic muscle tone, stretching of ligamentous structures, overhang of the upper eyelid.

scholarly journals Age-Related Differences in the Expression of Most Relevant Mediators of SARS-CoV-2 Infection in Human Respiratory and Gastrointestinal Tract

2021 ◽  
Vol 9 ◽  
Author(s):  
Roberto Berni Canani ◽  
Marika Comegna ◽  
Lorella Paparo ◽  
Gustavo Cernera ◽  
Cristina Bruno ◽  
...  
Keyword(s):  
Small Intestine ◽  
Angiotensin Converting Enzyme ◽  
Clinical Features ◽  
Clinical Severity ◽  
Nasal Epithelium ◽  
Pcr Analysis ◽  
Upper Respiratory Tract ◽  
Converting Enzyme ◽  
Age Related ◽  
Transmembrane Serine Protease

Background: Clinical features of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection seem to differ in children compared to that in adults. It has been hypothesized that the lower clinical severity in children could be influenced by differential expression of the main host functional receptor to SARS-CoV-2, the angiotensin-converting enzyme 2 (ACE2), but data are still conflicting. To explore the origin of age-dependent clinical features of coronavirus disease 2019 (COVID-19), we comparatively evaluated the expression in children and adult subjects of the most relevant mediators of the SARS-CoV-2 infection: ACE2, angiotensin-converting enzyme 1 (ACE1), transmembrane serine protease-2 (TMPRSS2), and neuropilin-1 (NRP1), at upper respiratory tract and small intestine level.Methods: The expression of ACE2, ACE1, TMPRSS2, and NRP1 in nasal epithelium and in small intestine epithelium was investigated by quantitative real-time PCR analysis.Results: We found no differences in ACE2, ACE1, and TMPRSS2 expression in the nasal epithelium comparing children and adult subjects. In contrast, nasal epithelium NRP1 expression was lower in children compared to that in adults. Intestinal ACE2 expression was higher in children compared to that in adults, whereas intestinal ACE1 expression was higher in adults. Intestinal TMPRSS2 and NRP1 expression was similar comparing children and adult subjects.Conclusions: The lower severity of SARS-CoV-2 infection observed in children may be due to a different expression of nasal NRP1, that promotes the virus interaction with ACE2. However, the common findings of intestinal symptoms in children could be due to a higher expression of ACE2 at this level. The insights from these data will be useful in determining the treatment policies and preventive measures for COVID-19.

scholarly journals Universal geometric coefficients for the four-punctured sphere (Extended Abstract)

2015 ◽  
Vol DMTCS Proceedings, 27th... (Proceedings) ◽  
Author(s):  
Emily Barnard ◽  
Emily Meehan ◽  
Shira Polster ◽  
Nathan Reading
Keyword(s):  
Cluster Algebra ◽  
Short List ◽  
Nous Permet ◽  
Rational Part ◽  
International Audience

International audience We construct universal geometric coefficients for the cluster algebra associated to the four-punctured sphere and obtain, as a by-product, the $g$ -vectors of cluster variables. We also construct the rational part of the mutation fan. These constructions rely on a classification of the allowable curves (the curves which can appear in quasi-laminations). The classification allows us to prove the Null Tangle Property for the four-punctured sphere, thus adding this surface to a short list of surfaces for which this property is known. The Null Tangle Property then implies that the shear coordinates of allowable curves are the universal coefficients. We compute these shear coordinates to obtain universal geometric coefficients. Nous construisons des coefficients géométriques universels pour l’algèbre amassée associée à la sphère privée de 4 points, et obtenons ce faisant les $g$-vecteurs des variables d’amas. Nous construisons aussi la partie rationnelle de l’éventail de mutation. Ces constructions reposent sur la classification des courbes admissibles (les courbes qui peuvent apparaître dans les quasi-laminations). Cette classification nous permet de prouver la “Null Tangle Property” pour la sphère privée de 4 points, ajoutant ainsi cette surface à la courte liste de surfaces pour lesquelles cette propriété est connue. La “Null Tangle Property” implique alors que les coordonnées de décalage des courbes admissibles sont les coefficients universels. Nous calculons ces coordonnées de décalage pour obtenir les coefficients géométriques universels.

scholarly journals SUBSTANTIATION AND DIFFERENTIAL APPROACH TO OPERATIVE TREATMENT OF PATIENTS WITH PSORIATIC ARTHRITIS

2020 ◽  
Vol 73 (1) ◽  
pp. 58-62
Author(s):  
Olexandr A. Burianov ◽  
Volodymyr P. Kvasha ◽  
Yuriy L. Sobolevskiy ◽  
Roman L. Stepanenko
Keyword(s):  
Staphylococcus Aureus ◽  
Psoriatic Arthritis ◽  
Treatment Outcomes ◽  
Operative Treatment ◽  
Operative Intervention ◽  
Pathogenic Microorganism ◽  
Differential Approach ◽  
Skeletal Disorders ◽  
Opportunistic Pathogenic

The aim: To improve the psoriatic arthritis treatment outcomes by establishing and implementing into practice operative treatment. Materials and methods: The study basis is represented with the results of examination and treatment of 252 patients with psoriatic arthritis. The biopsy samples from the problem psoriatic eruption and intact skins regions, received from 74 patients, were studied. Results: The study has established presence of Staphylococcus aureus in affected skin regions. The authors present their classification of structural muscular-skeletal disorders associated with psoriatic arthritis, which will substantiate the volume and character of operative interventions. Conclusions: Detection of numerous opportunistic pathogenic microorganism colonies stipulates for the necessary skin debridement while planning further operative treatment, aimed at correction of anatomical and biological abnormalities. The operative intervention volume depends on the severity of structural dysfunctions.

‘They had added not a single tiny proposition’: The Reception of the Prior Analytics in the First Half of the Twelfth Century

Vivarium ◽  
2010 ◽  
Vol 48 (1-2) ◽  
pp. 159-192 ◽  
Author(s):  
Christopher J. Martin
Keyword(s):  
Twelfth Century ◽  
Short List ◽  
General Terms ◽  
Formal Validity

AbstractA study of the reception of Aristotle’s Prior Analytics in the first half of the twelfth century. It is shown that Peter Abaelard was perhaps acquainted with as much as the first seven chapters of Book I of the Prior Analytics but with no more. The appearance at the beginning of the twelfth century of a short list of dialectical loci which has puzzled earlier commentators is explained by noting that this list formalises the classification of extensional relations between general terms and that this classification had already be put forward by Boethius in his de Syllogismo Categorico and Introductio ad Syllogismos Categoricas. It is pointed out the kind of text referred to as an ‘Introductio’ at the beginning of the twelfth-century follows very closely the structure of Boethius own Introductio and adds to it material drawn from his accounts of loci and the conditional propositions. It is argued that the reception of the Prior Analytics has to be understood against the background of this well developed tradition of treating together syllogisms, loci, and conditional propostions. Referring to a challenge to the formal validity of Darapti in the Ars Meliduna the paper concludes by illustrating that the theory of the syllogism presented in Prior Analytics was still controversial in the middle of the twelfth-century.

Sign in / Sign up

Export Citation Format

Share Document