Search results for "syndromes"
showing 10 items of 399 documents
Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations
2019
The identification of genetic defects that underlie inherited retinal diseases (IRDs) paves the way for the development of therapeutic strategies. Nonsense mutations caused approximately 12% of all IRD cases, resulting in a premature termination codon (PTC). Therefore, an approach that targets nonsense mutations could be a promising pharmacogenetic strategy for the treatment of IRDs. Small molecules (translational read-through inducing drugs
Prognosis Impact of Diabetes in Elderly Women and Men with Non-ST Elevation Acute Coronary Syndrome
2021
Few studies have addressed to date the interaction between sex and diabetes mellitus (DM) in the prognosis of elderly patients with non-ST-segment elevation acute coronary syndrome (NSTEACS). Our aim was to address the role of DM in the prognosis of non-selected elderly patients with NSTEACS according to sex. A retrospective analysis from 11 Spanish NSTEACS registries was conducted, including patients aged ≥70 years. The primary end point was one-year all-cause mortality. A total of 7211 patients were included, 2,770 (38.4%) were women, and 39.9% had DM. Compared with the men, the women were older (79.95 ± 5.75 vs. 78.45 ± 5.43 years, p <
Self-referral to chest pain units: results of the German CPU-registry
2012
Chest pain units (CPUs) are increasingly established in emergency cardiology services. With improved visibility of CPUs in the population, patients may refer themselves directly to these units, obviating emergency medical services (EMS). Little is known about characteristics and outcomes of self-referred patients, as compared with those referred by EMS. Therefore, we described self-referral patients enrolled in the CPU-registry of the German Cardiac Society and compared them with those referred by EMS.From 2008 until 2010, the prospective CPU-registry enrolled 11,581 consecutive patients. Of those 3789 (32.7%) were self-referrals (SRs), while 7792 (67.3%) were referred by EMS. SR-patients w…
Novel mutations of the MET proto-oncogene in papillary renal carcinomas.
1999
Hereditary papillary renal carcinoma (HPRC) is characterized by multiple, bilateral papillary renal carcinomas. Previously, we demonstrated missense mutations in the tyrosine kinase domain of the MET proto-oncogene in HPRC and a subset of sporadic papillary renal carcinomas. In this study, we screened a large panel of sporadic papillary renal carcinomas and various solid tumors for mutations in the MET proto-oncogene. Summarizing these and previous results, mutations of the MET proto-oncogene were detected in 17/129 sporadic papillary renal carcinomas but not in other solid tumors. We detected five novel missense mutations; three of five mutations were located in the ATP-binding region of t…
TCTN3 Mutations Cause Mohr-Majewski Syndrome
2012
Orofaciodigital syndromes (OFDSs) consist of a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of 13 OFDS subtypes. Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome). Analysis of 184 individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib polydactyly syndromes) led us to identify four additional truncating TCTN3 mutations in un…
A metabolomic approach to dry eye disorders. The role of oral supplements with antioxidants and omega 3 fatty acids.
2014
Purpose We used nuclear magnetic resonance spectroscopy of hydrogen-1 nuclei (1H NMR S) to analyze the metabolic profile of reflex tears from patients with dry eye disorders. Methods We performed a prospective case-control study involving 90 participants: 55 patients diagnosed with dry eye syndrome (DESG) and 35 healthy subjects (control group, CG). From the DESG, two subgroups were formed: mild DES (n=22) and moderate DES (n=33). Participants were prescribed an oral nutraceutic supplementation containing antioxidants and essential polyunsaturated fatty acids to be taken as three capsules per day for 3 months. Reflex tears (20–30 µl) were collected from the tear meniscus of both eyes of eac…
Prophylactic Thyroidectomy in 75 Children and Adolescents with Hereditary Medullary Thyroid Carcinoma: German and Austrian Experience
1998
When mutations of the RETproto-oncogene were found in 1993 to account for hereditary medullary thyroid carcinoma (MTC), surgeons obtained the opportunity to operate on patients prophylactically (i. e., at a clinically asymptomatic stage). Whether this approach is justified, and, if so, when and to which extent surgery should be performed remained to be clarified. A questionnaire was sent to all surgical departments in Germany and Austria. All of the patients who fulfilled the following criteria were enrolled: (1) preoperatively proved RET mutation; (2) age/= 20 years, (3) clinically asymptomatic thyroid C cell disease; and (4) TNM classification pT0-1/pNX/pN0-1/M0. Seventy-five patients wer…
A Phase I Study of Intravenous LBH589, a Novel Cinnamic Hydroxamic Acid Analogue Histone Deacetylase Inhibitor, in Patients with Refractory Hematolog…
2006
Abstract Purpose: LBH589 is a novel histone deacetylase inhibitor that inhibits proliferation and induces apoptosis in tumor cell lines. In this phase I study, LBH589 was administered i.v. as a 30-minute infusion on days 1 to 7 of a 21-day cycle. Experimental Design: Fifteen patients (median age, 63 years; range, 42-87 years) with acute myeloid leukemia (13 patients), acute lymphocytic leukemia (1 patient), or myelodysplastic syndrome (1 patient) were treated with LBH589 at the following dose levels (mg/m2): 4.8 (3 patients), 7.2 (3 patients), 9.0 (1 patient), 11.5 (3 patient), and 14.0 (5 patients). The levels of histone acetylation were measured using quantitative flow cytometry and plasm…
Local anaesthetic sympathetic blockade for complex regional pain syndrome
2016
This is the peer reviewed version of the following article: The Cochrane database of systematic reviews, which has been published in final form at https://doi.org/10.1002/14651858.CD004598.pub4. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving. Background: This review is an update of a previously published review in the Cochrane Database of Systematic Reviews, 2005, Issue 4 (and last updated in the Cochrane Database of Systematic Reviews, 2013 issue 8), on local anaesthetic blockade (LASB) of the sympathetic chain to treat people with complex regional pain syndrome (CRPS). Objectives: To assess the efficacy of LASB for the…
Activation of cutaneous immune responses in complex regional pain syndrome
2014
The pathogenesis of complex regional pain syndrome (CRPS) is unresolved, but tumor ne- crosis factor alpha (TNF-a) and interleukin-6 (IL-6) are elevated in experimental skin blister fluid from CRPS-affected limbs, as is tryptase, a marker for mast cells. In the rat fracture model of CRPS, exag- gerated sensory and sympathetic neural signaling stimulate keratinocyte and mast cell proliferation, causing the local production of high levels of inflammatory cytokines leading to pain behavior. The current investigation used CRPS patient skin biopsies to determine whether keratinocyte and mast cell proliferation occur in CRPS skin and to identify the cellular source of the up-regulated TNF-a, IL-6…