Search results for "EROD"

Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients

1998

SummaryNail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years. Recent evidence shows that NPS is the result of mutations in the LIM-homeodomain gene LMX1B. To determine whether specific LMX1B mutations are associated with different aspects of the NPS phenotype, we screened a cohort of 41 NPS families for LMX1B mutations. A total of 25 mutations were identified in 37 families. The nature of the mutations supports the hypothesis that NPS is the result of haploinsufficiency for LMX1B. There was no evidence of correlation between aspects of the NPS phenotype and specific mutations.

Lipofilling and platelet rich plasma, Hyaluronic acid and platelet rich plasma: new perspectives for scleroderma patients

2016

Implants in patients with oral manifestations of autoimmune or muco-cutaneous diseases – A systematic review

2018

Background To give an overview on implant survival rates in patients with oral manifestations of systemic autoimmune (oral Lichen planus (oLp), Pemphigus (Pe)), muco-cutaneous (Epidermolysis bullosa (EB)), autoimmune multisystemic rheumatic diseases (Sjögren´s syndrome (SjS), systemic Lupus erythematosus (sLE), or systemic Sclerosis (sSc)). Material and Methods Systematic literature review (PubMed/Medline, Embase) using MESH and search term combinations, published between 1980 and August 2018 in English language reporting on dental implant-prosthetic rehabilitation of patients with oLp, Pe, EB, SjS, sLE, sSc, study design, age, gender, follow-up period (≥ 12 months), implant survival rate. …

COVID‐19 and exacerbation of dermatological diseases: A review of the available literature

2021

Abstract Since the emergence of the new coronavirus disease 19 (COVID‐19) pandemic, there has been a concern for the patients with chronic autoimmune diseases including dermatological conditions over the potential exacerbation of these underlying conditions after infection with severe acute respiratory syndrome coronavirus‐2 (SARS‐CoV2). We performed a systematic review to evaluate presentations, postinfection change in the manifestation, diagnosis, and management of flare‐ups of underlying dermatologic disease in patients with COVID‐19. A total of 17 articles were recovered reporting on flare‐ups of dermatological disease including pemphigus vulgaris, psoriasis, subacute cutaneous lupus er…

The skin in autoimmune diseases-Unmet needs.

2016

Treatment of skin manifestations in systemic lupus erythematosus (SLE), systemic sclerosis (SSc), and dermatomyositis (DM) is based on the results of only few randomized controlled trials. The first-line treatment for disfiguring and widespread cutaneous involvement in SLE is antimalarials, but some patients are therapy resistant. Recently, the monoclonal antibody belimumab was approved for SLE as an adjunct therapy for patients with autoantibody-positive disease who despite standard therapy show high disease activity, intolerance of other treatments, or an unacceptably high need for corticosteroids. However, a validated skin score has not been used to confirm the efficacy of belimumab on m…

Parry Romberg Syndrome with localized scleroderma: a case report

2014

Parry Romberg syndrome(PRS) is a rare acquired poorly understood neurocutaneous syndrome of unknown etiology characterized by slow progressive atrophic changes commonly affecting one half of the face. The exact incidence and etiology towards the syndrome remains unclear. Apart from the multifactorial etiology proposed, the possible primary cause is mainly attributed to the cerebral disturbance of the fat metabolism. The syndrome overlaps with “en coup de sabre” morphea, with an ill defined relationship existing between the two. Parry Romberg Syndrome is an invalidating lesion that may be associated with different neurological, cutaneous, ocular, dental and autoimmune abnormalities. This rep…

Verbesserte Orts- und Kontrastauflösung in der Ultraschalldiagnostik durch Nutzung Harmonischer Frequenzen

2001

Background: The aim of new techniques in head and neck sonography is to increase the sensitivity and the specificity of the examination, With tissue harmonic imaging (THI) and contrast harmonic imaging (CHI) new techniques are available which allow increased contrast and resolution in head and neck sonography as well as a better detection of small blood vessels. Methods: We studied whether these techniques improve sonographic detection of head and neck lymph nodes and primary tumours of the upper aerodigestive tract. Results: The results indicate that THI allows a better detection of cervical lymph nodes. Furthermore, intranodal structures and the borders of the lymph node can be better det…

New strategies for medical management of overactive bladder in children.

2011

Purpose of review The medical treatment of children with non-neurogenic overactive bladder syndrome (OAB) is still limited to a small number of drugs approved for use in childhood according to the national regulations of each country. Recent findings Over the last few years, there were several studies on the use of antimuscarinics other than oxybutynin in children, as well as some on the use of extended release oxybutynin and tolterodine and transdermal oxybutynin. It was shown that the combination of two different anticholinergics might be a well tolerated and successful option in children with OAB refractory to monotherapy, as well as administration of a receptor-selective antimuscarinic …

The "Renocentric Theory" of Renal Resistive Index: Is It Time for a Copernican Revolution?

2020

Ultrasound (US) with duplex Doppler scanning has spread to the capillary level, becoming an irreplaceable tool in daily clinical practice thanks to its characteristics: low cost, repeatability, and noninvasiveness. Moreover, US has become over time more sensitive and accurate; it can be considered an extension of the clinician’s hand. For this reason, it currently represents the ideal tool for first-level diagnostic use in several fields, and is the simplest and most flexible instrument for obtaining morphological and functional information on different organs, including the kidneys. In this issue of The Journal , Gigante, et al 1 propose to assess renal involvement in patients with systemi…

Safety and tolerability of β3-adrenoceptor agonists in the treatment of overactive bladder syndrome - insight from transcriptosome and experimental s…

2016

We have reviewed the safety and tolerability of β3-adrenoceptor agonists, specifically mirabegron and solabegron, a newly emerging drug class for the treatment of the overactive bladder syndrome. We discuss them mechanistically in the context of expression and other preclinical data.Based on a systematic PubMed search, incidence of overall adverse events, hypertension, dry mouth, and constipation are comparable between mirabegron or solabegron and placebo. Hypertension is the most frequently observed adverse event, but has a similar incidence with mirabegron and placebo. Nevertheless, severe uncontrolled hypertension has become a contraindication for use of mirabegron based on observation o…