42 research outputs found
Mycosis Fungoides Associated with Kaposi\u27s Sarcoma, T-cell Rich B-cell Lymphoma, and T cell Lymphoma with Angioimmunoblastic Features
A patient with mycosis fungoides (MF), Kaposi\u27s sarcoma, T-cell B-cell rich lymphoma and T-cell lymphoma with angioimmunoblastic features is described. The appearance of multiple malignancies in this patient may have been caused by previous exposure to radiation in the Chernobyl accident and/or systemic chemotherapy for the initial T-cell B-cell rich lymphoma which he underwent.</p
An Uncommon Presentation of Darier-White Disease with Hystrix-like Palmoplantar Keratoderma
Darier-White disease is a relatively common autosomal dominant
genodermatosis caused by mutation in the ATP2A2 gene. It is characterized by
multiple warty papules coalescing into plaques in the seborrheic areas and by
specific histological skin changes. Palm and sole involvement in Darier-White
disease is usually mild, mainly featuring discrete and small keratotic papules. We
present a unique case of Darier-White disease presenting with a diffuse, mutilating
hystrix-like palmoplantar keratoderma
An Uncommon Presentation of Darier-White Disease with Hystrix-like Palmoplantar Keratoderma
Darier-White disease is a relatively common autosomal dominant
genodermatosis caused by mutation in the ATP2A2 gene. It is characterized by
multiple warty papules coalescing into plaques in the seborrheic areas and by
specific histological skin changes. Palm and sole involvement in Darier-White
disease is usually mild, mainly featuring discrete and small keratotic papules. We
present a unique case of Darier-White disease presenting with a diffuse, mutilating
hystrix-like palmoplantar keratoderma
FOXP3 Predicts Response to Treatment in Mycosis Fungoid
Background: The role of the T-regulatory cells (Tregs) marker forkhead box Protein
3 (FOXP3) in mycoses fungoides (MF) pathogenesis is unclear and the results of
previous studies are inconclusive.
Objective: We aimed at ascertaining the possibility that FOXP3 expression may
serve to predict MF stage and response to therapy.
Patients and methods: Immunohistochemistry staining for FOXP3 was performed
on 30 skin biopsies from patients with MF, and FOXP3 expression level was quantitatively
graded. Disease stage, progression, and response to treatment were determined
based on clinical and imaging evidence, and association with FOXP3 expression
was assessed.
Results: FOXP3 expression in the dermis correlated with poor response to treatment
(P=0.047). A negative non-significant relationship between epidermal FOXP3
expression and clinical stage severity was observed (P=0.17).
Conclusions: Dermal FOXP3 expression in MF lesions could be used to predict response
to treatment in patients with MF
FOXP3 Predicts Response to Treatment in Mycosis Fungoid
Background: The role of the T-regulatory cells (Tregs) marker forkhead box Protein
3 (FOXP3) in mycoses fungoides (MF) pathogenesis is unclear and the results of
previous studies are inconclusive.
Objective: We aimed at ascertaining the possibility that FOXP3 expression may
serve to predict MF stage and response to therapy.
Patients and methods: Immunohistochemistry staining for FOXP3 was performed
on 30 skin biopsies from patients with MF, and FOXP3 expression level was quantitatively
graded. Disease stage, progression, and response to treatment were determined
based on clinical and imaging evidence, and association with FOXP3 expression
was assessed.
Results: FOXP3 expression in the dermis correlated with poor response to treatment
(P=0.047). A negative non-significant relationship between epidermal FOXP3
expression and clinical stage severity was observed (P=0.17).
Conclusions: Dermal FOXP3 expression in MF lesions could be used to predict response
to treatment in patients with MF
Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort
ESTs and EST-linked polymorphisms for genetic mapping and phylogenetic reconstruction in the guppy, Poecilia reticulata
<p>Abstract</p> <p>Background</p> <p>The guppy, <it>Poecilia reticulata</it>, is a well-known model organism for studying inheritance and variation of male ornamental traits as well as adaptation to different river habitats. However, genomic resources for studying this important model were not previously widely available.</p> <p>Results</p> <p>With the aim of generating molecular markers for genetic mapping of the guppy, cDNA libraries were constructed from embryos and different adult organs to generate expressed sequence tags (ESTs). About 18,000 ESTs were annotated according to BLASTN and BLASTX results and the sequence information from the 3' UTRs was exploited to generate PCR primers for re-sequencing of genomic DNA from different wild type strains. By comparison of EST-linked genomic sequences from at least four different ecotypes, about 1,700 polymorphisms were identified, representing about 400 distinct genes. Two interconnected MySQL databases were built to organize the ESTs and markers, respectively. A robust phylogeny of the guppy was reconstructed, based on 10 different nuclear genes.</p> <p>Conclusion</p> <p>Our EST and marker databases provide useful tools for genetic mapping and phylogenetic studies of the guppy.</p
Epidermolytic Ichthyosis Sine Epidermolysis
Epidermolytic ichthyosis (EI) is a rare disorder of cornification caused by mutations in KRT1 and KRT10, encoding two suprabasal epidermal keratins. Because of the variable clinical features and severity of the disease, histopathology is often required to correctly direct the molecular analysis. EI is characterized by hyperkeratosis and vacuolar degeneration of the upper epidermis, also known as epidermolytic hyperkeratosis, hence the name of the disease. In the current report, the authors describe members of 2 families presenting with clinical features consistent with EI. The patients were shown to carry classical mutations in KRT1 or KRT10, but did not display epidermolytic changes on histology. These observations underscore the need to remain aware of the limitations of pathological features when considering a diagnosis of EI
Calpain 12 function revealed through the study of an atypical case of autosomal recessive congenital ichthyosis
The scientific payload of the Ultraviolet Transient Astronomy Satellite (ULTRASAT)
The Ultraviolet Transient Astronomy Satellite (ULTRASAT) is a space-borne
near UV telescope with an unprecedented large field of view (200 sq. deg.). The
mission, led by the Weizmann Institute of Science and the Israel Space Agency
in collaboration with DESY (Helmholtz association, Germany) and NASA (USA), is
fully funded and expected to be launched to a geostationary transfer orbit in
Q2/3 of 2025. With a grasp 300 times larger than GALEX, the most sensitive UV
satellite to date, ULTRASAT will revolutionize our understanding of the hot
transient universe, as well as of flaring galactic sources. We describe the
mission payload, the optical design and the choice of materials allowing us to
achieve a point spread function of ~10arcsec across the FoV, and the detector
assembly. We detail the mitigation techniques implemented to suppress
out-of-band flux and reduce stray light, detector properties including measured
quantum efficiency of scout (prototype) detectors, and expected performance
(limiting magnitude) for various objects.Comment: Presented in the SPIE Astronomical Telescopes + Instrumentation 202