Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

ConclusionOur study allowed the expansion of the clinical spectrum of mosaic RASopathies and supports that mosaicism for recurrent mutations inKRASandFGFR1is a commonly involved mechanism in these rare oculocutaneous anomalies.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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Clinical Pathologic Mismatch in a TNF-α Inhibitor-Associated Drug Reaction J Drugs Dermatol. 2019 Aug 01;18(8):828-830 Authors: O’Brien KF, Maiman RE, DeWitt CA Abstract A 56-year-old Caucasian male with a history of chronic plaque psoriasis, primary sclerosing cholangitis status-post liver transplant on tacrolimus, and ulcerative colitis on infliximab developed a progressive erythematous eruption with associated fatigue, anorexia, myalgias, and arthralgias. On two separate occasions, his skin biopsy demonstrated a lichenoid interface dermatitis (LID). Despite multiple courses of oral predn...
Source: Journal of Drugs in Dermatology - Category: Dermatology Tags: J Drugs Dermatol Source Type: research
ConclusionsThe dual steristrip technique is a safe and effective needle stabilization method that should be considered by the interventional radiologist in challenging CT-guided bone biopsy cases.
Source: Skeletal Radiology - Category: Radiology Source Type: research
Authors: Jeremic J, Stefanovic A, Jeremic K, Jovic M, Pilic I, Cvetkovic A, Stojanovic M Abstract Dermatofibrosarcoma protuberans (DFSP) is a rare, slow-growing fibro-cutaneous tumor of low to intermediate grade malignancy. It is characterized by local dermal and subcutaneous infiltration, but also with destructive infiltration of the surrounding tissues (muscle, fascia, and bone). The size of the tumor varies from small nodular to large neglected masses. Males and females are equally affected. The tumor is most often localized in the trunk and the proximal extremities. At a molecular level, more than 90% of all DF...
Source: Journal of B.U.ON. - Category: Cancer & Oncology Tags: J BUON Source Type: research
Conclusion: Majority of patients showed affection of hair follicles by dermatophytes in clinically chronic, recurrent, and recalcitrant dermatophytic infections. GMS stain is the acceptable gold standard for detection of fungal elements.
Source: International Journal of Trichology - Category: Dermatology Authors: Source Type: research
Publication date: Available online 18 August 2019Source: Journal of Cardiology CasesAuthor(s): Susumu Odajima, Takumi Inoue, Tomoyo Hamana, Ryota Masaki, Wataru Fujimoto, Koji Kuroda, Yutaka Hatani, Masamichi Iwasaki, Hiroshi Okamoto, Masanori Okuda, Takatoshi HayashiAbstractA 58-year-old woman with pallor on her left hand due to chronic hemodialysis presented with a recent intractable skin ulcer on her left 3rd finger; the skin perfusion pressure (SPP) was 19 mmHg. Preoperative angiography revealed an occluded proximal left radial artery, no communication between the ulnar and superficial palmar arteries, several c...
Source: Journal of Cardiology Cases - Category: Cardiology Source Type: research
In comparison with the 7th Edition, the 8th Edition of the American Joint Committee on Cancer (AJCC) staging system for melanoma no longer considers the mitotic count in the a or b T1 categorization, but it adopts a sub-stratification based on Breslow depth: T1a ≤ 0.8 mm without ulceration and T1b ≤ 0.8 mm with ulceration or 0.8 to 1 mm with or without ulceration. Skin melanoma can be subdivided by Breslow depth into thin melanoma (≤1 mm) or thick melanoma (>1  mm). According to the AJCC 8th Edition, a and b specifications are assigned based on ulceration and depth, which replace the mitotic count for square millimeter.
Source: Journal of the American College of Surgeons - Category: Surgery Authors: Tags: Letter Source Type: research
Publication date: Available online 16 August 2019Source: IDCasesAuthor(s): Nicholas Cheronis, Dustin Carr, Nitin BhanotAbstractNocardiosis is a potentially life-threatening infection that affects both immunocompetent and immunosuppressed hosts. We discuss a case of an elderly gentleman with history of orthotopic liver transplantation who presented with cellulitis of his left forearm. When he did not respond to the typical antibiotic coverage for bacterial cellulitis, skin biopsy was performed. N. arthritidis was identified as the pathogen, a relatively newly identified human pathogen first described to cause human disease in 2004.
Source: IDCases - Category: Infectious Diseases Source Type: research
Psoriasis and atopic dermatitis are two inflammatory skin diseases with a high prevalence and a significant burden on the patients. Underlying molecular mechanisms include chronic inflammation and abnormal pro...
Source: BMC Medical Genomics - Category: Genetics & Stem Cells Authors: Tags: Research article Source Type: research
Conclusion: This titanium-coated polypropylene mesh showed acceptable complications and could be used safely in prosthesis-based breast reconstruction by stabilizing the implant pocket. Longer follow-up data and more randomized trials are necessary to determine the clinical use of this mesh.
Source: Nigerian Journal of Clinical Practice - Category: Rural Health Authors: Source Type: research
Today ’s methods of detecting circulating tumor cells (CTCs) in blood are hampered by poor sensitivity, which limits the so-called liquid biopsies’ usefulness for catching low-level CTCs present before metastasis, when prognosis is better. A new photoacoustic liquid biopsy approach that peers through the skin was more sensitive than existing assays in detecting CTCs in patients with melanoma.
Source: JAMA - Category: General Medicine Source Type: research
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