Search results for "Dermatology"

Extended surgical safety margins and ulceration are associated with an improved prognosis in pleomorphic dermal sarcomas

2019

BACKGROUND Pleomorphic dermal sarcomas (PDS) are frequent UV-induced sarcomas of the skin of intermediate grade malignant potential. Despite the fact that PDS have a noteworthy potential to recur (up to 28%) as well as to metastasize (up to 20%), there are no specific clinical guidelines with respect to follow-up these patients. Moreover, little is known about clinical, histological or molecular prognostic factors in PDS. OBJECTIVE The aim of the present study was to identify risk factors to predict relapse in a large multicentre sample cohort of PDS which could aid to optimize personalized treatment recommendations regarding surgical safety margins and adjuvant radiotherapy. METHODS Patien…

Lack of TERT promoter mutations in melanomas with extensive regression

2015

Incidence of severe COVID-19 outcomes in psoriatic patients treated with systemic therapies during the pandemic: A Biobadaderm cohort analysis

2021

Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

2018

Abstract PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674 ) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene. We evaluated two Spanish siblings affected with pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile cataracts in whom the genetic test of ABHD12 revealed a novel homozygous frameshift mutation, c.211_223del (p.Arg71Tyrfs*26). The earliest clinical manifestation in these patients was a demyelinating neuropathy manifested with a Charcot-Marie-Tooth phenotype over three decades. Progressive hearing loss, cataracts and retinitis pigmentosa appeared after the age of 30. …

Pattern analysis of human cutaneous mast cell populations by total body surface mapping.

2003

SummaryBackground Mast cells (MCs), critical effector cells in allergic inflammation and innate immunity to bacteria, are located in large numbers in tissues that interface the external environment, including the skin. However, little is known about the distribution and numbers of human skin MCs. Objectives To assess the influence of age, sex and skin region on size and spatial distribution of MC populations in normal human skin. Methods Biopsies of healthy skin were obtained from 150 male and female individuals (age range 10–86 years). MCs were quantified and mapped planimetrically by histomorphometry in 15 anatomical sites (abdomen, thorax, lower and upper back, lower and upper arm, lower…

Unusual clinical variants of cutaneous leishmaniasis in Sicily

2009

Background  The term “leishmaniasis” defines a group of vector-borne diseases caused by species of the genus Leishmania and characterized by a spectrum of clinical manifestations. Parasite properties (infectivity, pathogenicity, virulence), host factors, and host responses regulate heterogeneous disease expression. Sicily is one of the major islands of the Mediterranean Basin and is considered to be a hypo-endemic area for cutaneous leishmaniasis. Leishmania infantum is the most common species on the island. Methods  Fifty patients (both sexes and different ages) with lesions clinically suggestive of cutaneous leishmaniasis were recorded over a 1-year period. The diagnosis was based on posi…

Prospective study of the 532 nm laser (KTP) versus diode laser 980 nm in the resection of hyperplastic lesions of the oral cavity

2018

Background The aim of this study is to evaluate the resection of hyperplastic lesions on the buccal mucosa comparing the 532nm laser (KTP), versus diode 980nm laser, considering pain, scarring, inflammation and drug consumption that occurred postoperatively with each lasers. Material and Methods A prospective study of consecutive series of 20 patients in two groups that presents hyperplastic lesions on the buccal mucosa. The choice of the KTP laser or diode 980nm laser for the surgery was made randomly. The power used was 1.5W in both groups in a continuous wave mode with a 320 μm optical fiber. Parameters of pain, scarring, inflammation and consumption of drugs were recorded by a Numerical…

Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes

2019

BACKGROUND Hereditary angioedema (HAE) is a group of genetic diseases characterized by recurrent, painful and potentially lethal tissue swelling. The most common form results from mutations in the SERPING1 gene, leading to reduced function of complement 1 inhibitor (C1-INH). Rarer forms with normal C1-INH may arise from mutations in the coagulation factor F12 gene, but mostly the genetic background is unknown. Recently, a novel HAE mutation in the plasminogen (PLG) gene was shown. PATIENTS AND METHODS We analyzed the various clinical manifestations of HAE in 14 related patients using clinical data, biochemical analysis for C1-INH and C4 as well as gene sequencing. RESULTS Patients' symptoms…

High-Concentration Liquid Prednisolone Formula: Filling a Therapeutic Niche in Severe Acute Attacks of Urticaria and Angioedema.

2015

<b><i>Background/Aims:</i></b> According to current guidelines, the emergency kit for patients with severe urticaria and/or angioedema should include a corticosteroid with a prednisolone-equivalent of 50-100 mg. Since severe dysphagia may occur in anaphylaxis, liquid corticosteroids are advantageous. Presently, only liquid preparations with less than 100 mg prednisolone equivalent are available worldwide. <b><i>Methods:</i></b> We prepared a highly concentrated liquid prednisolone formula for oral administration (1 or 5 mg prednisolone per ml). We observed efficacy and safety of 100 mg or >250 mg liquid oral prednisolone in comparison to in…

Evaluation of Hypertension, Proteinuria, and Abnormalities of Body Weight in Italian Adolescents Participating in the World Kidney Days

2020

Introduction: World Kidney Day (WKD) was promoted by the Italian Kidney Foundation and the Italian Society of Nephrology for raising awareness, detection, prevention, and treatment of kidney diseases. The Italian WKD focused on the “School Project” by screening students attending the fifth year of high school. The main goal of the “School Project” was to assess in healthy adolescents the presence of hypertension (HTN) and proteinuria; as well as to evaluate potential interrelations between overweight, obesity (both measured with different anthropometric methods), blood pressure (BP) levels, and proteinuria. The ancillary goal was to have an estimate of awareness on some nephrology topics. M…