The Kimmelstiel-Wilson Syndrome And Its Clinical Variants

2015 ◽  
pp. 91-94
Author(s):  
Harold Rifkin
Keyword(s):  
Clinical Variants

Clinical variants of porokeratosis (Mibelli)

1968 ◽  
Vol 98 (2) ◽  
pp. 124-131 ◽  
Author(s):  
G. R. Mikhail
Keyword(s):  
Clinical Variants

scholarly journals AB0440 CLINICAL AND IMMUNOLOGICAL FEATURES OF THE SYSTEMIC SCLEROSIS-OVERLAP SYNDROMES

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1248.2-1248
Author(s):  
O. Desinova ◽  
M. Starovoytova ◽  
L. P. Ananyeva ◽  
O. Koneva ◽  
L. Garzanova ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Pathological Process ◽  
Point Of View ◽  
Joint Involvement ◽  
Laboratory Findings ◽  
Overlap Syndromes ◽  
Digital Ischemia ◽  
Immune Alterations ◽  
Clinical Variants

Background:Systemic Sclerosis (SSc) overlap syndromes (SSc with polymyositis / dermatomyositis (PM/DM), rheumatoid arthritis (RA), etc.) still remain a group of very heterogenous and not very well studied clinical variants of SSc that are characterized by certain clinical and immunological features.Objectives:Identify clinical and immunological features of the SSc-overlap syndromesMethods:80 pts with SSc-PM/DM and 35 pts with SSc-RA undergoing standard clinical examination and laboratory immunological evaluation.Results:ANA Hep2 was positive in 98% of SSc-PM/DM pts; a-Scl-70 was in 34%, a - PM-Scl and RF were in 20%. ACA (6%), a-RNP (9%), and a - Jo-1 (5%) were significantly less common. Correlation analysis showed significant prevalence of conduction abnormalities in pts with a-Scl-70- (p<0.03); PM-Scl was rarely associated with cardiac arrhythmia (p<0.02) and pericarditis (p<0.03), but there was an association between ACA and presence of digital ischemia (p<0.04). Three pts with limited skin had Scl-70 and PM-Scl antibodies, two of them manifested clinical features of DM. A-Jo-1 was found in 3 pts with a longstanding disease (14,10 and 7 years), and one of these pts was also positive for a-Scl-70. All pts had limited skin and two had interstitial lung disease with FVC values of 79% and 74.8%.ANA Hep2 was positive in 96% of SSc-RA pts; a-Scl-70 – in 28%, and a-RNP - in 30%. RF-positivity was in 72% of pts, and Anti-CCP - in 27%. Simultaneous Anti-CCP and a-Scl-70 was found in one case, and Anti-CCP - anti-RNP – in another, both were associated with low RF titers. All pts had early joint involvement which became prevailing in subsequent years, and onset of the disease between 30 and 36 years. There was a correlation between laboratory signs of inflammatory activity and immunological disorders: ESR and a-Scl-70 (p<0.03). Anti-CCP and a-Scl-70 co-positivity was a significantly less frequent phenomenon (p<0.04). There was a remarkable 28% proportion of a-Scl-70 cases in SSc-RA with limited cutaneous which is usually characterized by ACA-positivity.Conclusion:SSc-PM/DM and SSc-RA appear to be an active disease from the immunological point of view, confirming therefore an important role of immune alterations in disease progression. Laboratory findings display specific pathogenetic features of SSc-overlap syndromes; laboratory abnormalities can be used to measure the activity and specify characteristics of the pathological process.Disclosure of Interests:None declared

scholarly journals Creating a ‘Molecular Band-Aid’; Blocking an Exposed Protease Target Site in Desmoplakin

2021 ◽  
Vol 11 (5) ◽  
pp. 401
Author(s):  
Catherine A. Hoover ◽  
Kendahl L. Ott ◽  
Heather R. Manring ◽  
Trevor Dew ◽  
Maegen A. Borzok ◽  
...  
Keyword(s):  
Hot Spot ◽  
Single Point ◽  
Md Simulations ◽  
Amino Acid Position ◽  
Target Site ◽  
Molecular Band ◽  
Single Point Mutation ◽  
Enzymatic Assays ◽  
Protein Levels ◽  
Clinical Variants

Desmoplakin (DSP) is a large (~260 kDa) protein found in the desmosome, a subcellular complex that links the cytoskeleton of one cell to its neighbor. A mutation ‘hot-spot’ within the NH2-terminal third of the DSP protein (specifically, residues 299–515) is associated with both cardiomyopathies and skin defects. In select DSP variants, disease is linked specifically to the uncovering of a previously-occluded calpain target site (residues 447–451). Here, we partially stabilize these calpain-sensitive DSP clinical variants through the addition of a secondary single point mutation—tyrosine for leucine at amino acid position 518 (L518Y). Molecular dynamic (MD) simulations and enzymatic assays reveal that this stabilizing mutation partially blocks access to the calpain target site, resulting in restored DSP protein levels. This ‘molecular band-aid’ provides a novel way to maintain DSP protein levels, which may lead to new strategies for treating this subset of DSP-related disorders.

scholarly journals Characteristics of Pruritus in Various Clinical Variants of Psoriasis: Results of the Multinational, Multicenter, Cross-Sectional Study

Life ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 623
Author(s):  
Kamila Jaworecka ◽  
Dominika Kwiatkowska ◽  
Luiza Marek ◽  
Funda Tamer ◽  
Aleksandra Stefaniak ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Cross Sectional Study ◽  
Pustular Psoriasis ◽  
Cross Sectional ◽  
Large Plaque ◽  
Scalp Psoriasis ◽  
Generalized Pustular Psoriasis ◽  
Itch Sensation ◽  
Clinical Variants ◽  
Subtype A

Psoriasis is a chronic, inflammatory skin disease present in about 3% of the world’s population. The clinical symptoms manifest diversely, therefore one can distinguish several subtypes of psoriasis. The majority of patients with psoriasis experience pruritus, which is an unpleasant sensation that decreases patients’ quality of life. The knowledge on pruritus in different subtypes of psoriasis is limited. We have performed a cross-sectional, prospective, and multicenter study to evaluate the relationship between clinical subtypes of psoriasis (large-plaque, nummular, guttate, palmoplantar, inverse, erythrodermic, palmoplantar pustular, generalized pustular psoriasis, and psoriasis of the scalp) and the prevalence, intensity, and clinical manifestation of itch. We introduced a questionnaire assessing various aspects of pruritus to a total of 254 patients. Out of these, 42 were excluded. Pruritus was present in 92.9% of the remaining patients and its prevalence did not depend on the clinical subtype. A correlation between the severity of psoriasis and the intensity of itch was explicitly noticeable in palmoplantar pustular psoriasis and scalp psoriasis (p < 0.05). The itch sensation was individual and differed among subtypes of psoriasis. In conclusion, pruritus is a frequent phenomenon, and its presentation is different in various subtypes of psoriasis.

Spanish Version of the Mini-Linguistic State Examination for the Diagnosis of Primary Progressive Aphasia

2021 ◽  
pp. 1-8
Author(s):  
Jordi A. Matias-Guiu ◽  
Vanesa Pytel ◽  
Laura Hernández-Lorenzo ◽  
Nikil Patel ◽  
Katie A. Peterson ◽  
...  
Keyword(s):  
Primary Progressive Aphasia ◽  
Spanish Version ◽  
Classification Model ◽  
Healthy Controls ◽  
Language Test ◽  
Cross Sectional ◽  
Progressive Aphasia ◽  
Primary Progressive ◽  
Clinical Variants ◽  
State Examination

Background: Primary progressive aphasia (PPA) is a neurodegenerative syndrome with three main clinical variants: non-fluent, semantic, and logopenic. Clinical diagnosis and accurate classification are challenging and often time-consuming. The Mini-Linguistic State Examination (MLSE) has been recently developed as a short language test to specifically assess language in neurodegenerative disorders. Objective: Our aim was to adapt and validate the Spanish version of MLSE for PPA diagnosis. Methods: Cross-sectional study involving 70 patients with PPA and 42 healthy controls evaluated with the MLSE. Patients were independently diagnosed and classified according to comprehensive cognitive evaluation and advanced neuroimaging. Results: Internal consistency was 0.758. The influence of age and education was very low. The area under the curve for discriminating PPA patients and healthy controls was 0.99. Effect sizes were moderate-large for the discrimination between PPA and healthy controls. Motor speech, phonology, and semantic subscores discriminated between the three clinical variants. A random forest classification model obtained an F1-score of 81%for the three PPA variants. Conclusion: Our study provides a brief and useful language test for PPA diagnosis, with excellent properties for both clinical routine assessment and research purposes.

scholarly journals Dermoscopic aspect of verrucous epidermal nevi: New findings

2019 ◽  
Author(s):  
ÖMER FARUK ELMAS ◽  
NECMETTİN AKDENİZ
Keyword(s):  
Polarized Light ◽  
Diagnostic Methods ◽  
The Other ◽  
Diagnostic Process ◽  
Fine Scale ◽  
Epidermal Nevus ◽  
Clinical Interpretation ◽  
New Findings ◽  
Clinical Variants ◽  
Histopathological Investigation

Background and Aim: Verrucous epidermal nevi are cutaneous hamartomas having many clinical variants. Dermoscopic features of verrucous epidermal nevus have rarely been investigated. We aimed to identify dermoscopic findings of the entity which will facilitate the diagnostic process by reducing the use of invasive diagnostic methods. Material and Methods: The study included the patients with histopathologically approved verrucous epidermal nevus. Clinical, dermoscopic and histopathological features of the patients were retrospectively reviewed and the findings identified were recorded. Dermoscopic examination was performed with a polarized-light handheld dermoscope with 10-fold magnification. Results: The most common dermoscopic features were thick brown circles, thick brown branched lines and terminal hairs. The most common vessel pattern was dotted vessels. Branched thick brown lines, brown globules, brown dots forming lines, serpiginous brown dots, white and brown exophytic papillary structures, fine scale, thick adherent scale and cerebriform structures were the other findings. Conclusion: We observed many vascular and non-vascular dermoscopic findings which have not been described previously for the entity. Dermoscopic examination of the verrucous epidermal nevi may lead more reliable clinical interpretation and thus it may reduce the need for histopathological investigation. Keywords: dermoscopy, large brown circles, verrucous epidermal nevus

scholarly journals Linear scleroderma: a series of all clinical variants

2014 ◽  
Vol 5 (2) ◽  
pp. 185-187
Author(s):  
Keerthi Jampani ◽  
Akshaya Nagaraja ◽  
Srilakshmi Peddireddy ◽  
Shiva Kumar V.
Keyword(s):  
Linear Scleroderma ◽  
Clinical Variants

O4-09-04: Diverging PIB and FDG covariance patterns across clinical variants of Alzheimer's disease

2012 ◽  
Vol 8 (4S_Part_17) ◽  
pp. P632-P632
Author(s):  
Manja Lehmann ◽  
Pia Ghosh ◽  
Cindee Madison ◽  
Chiara Corbetta ◽  
Andrea Long ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Clinical Variants
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