Search results for "Late onset"
showing 10 items of 50 documents
Clinical Presentation of Patients with Adult Late-Onset Telomere Biology Disorders - Results from the Aachen Telomeropathy Registry
2021
Abstract Introduction: Telomere biology disorders (TBD) are caused by mutations affecting proper telomere maintenance resulting in premature telomere shortening. Telomere length (TL) assessment is currently being used for screening and diagnosis of TBD of which Dyskeratosis congenita (DKC) is the most prominent TBD subtype typically found in children and adolescents. In adults, TBDs are characterized by a broad spectrum of more "cryptic" diverging mono- or oligosymptomatic clinical manifestations such as bone marrow failure (BMF), hepatopathy or interstitial lung disease (ILD). However, despite growing general clinical awareness and exertion of improved TL screening strategies, insufficient…
Outcome of Bleb Revision With Autologous Conjunctival Graft Alone or Combined With Donor Scleral Graft for Late-onset Bleb Leakage With Hypotony Afte…
2020
Prcis Treatment of leakage with ocular hypotony after trabeculectomy with mitomycin C (MMC) can be safely achieved through conjunctival patch alone or combined with donor scleral graft in cases of melted underlying sclera. Purpose To report outcomes of 2 surgical approaches for treating ocular hypotony in eyes with blebs with late-onset leakage after standard trabeculectomy with MMC. Methods Thirty consecutive cases with bleb leakage and hypotony underwent bleb revision surgery between 2009 and 2014 by the same surgeon (J.W.) at the Department of Ophthalmology of the Mainz University Medical Center, Germany. In 18 patients, an autologous conjunctival patch graft was applied. In 12 patients,…
Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area
2015
Abstract Background: Familial amyloid polyneuropathy related to transthyretin gene (TTR-FAP) is a life-threatening disease transmitted as an autosomal dominant trait. Val30Met mutation accounts for the majority of the patients with large endemic foci especially in Portugal, Sweden and Japan. However, more than one hundred other mutations have been described worldwide. A great phenotypic variability among patients with late- and early-onset has been reported. Objective: To present a detailed report of TTR-FAP patients diagnosed in our tertiary neuromuscular center, in a 20-year period. Methods: Clinical informations were gathered through the database of our center. Results: The study involve…
A novel S379A TARDBP mutation associated to late-onset sporadic ALS
2019
Since 2008, several groups have reported a lot of dominant mutations in TARDBP gene as a primary cause of Amyotrophic lateral sclerosis (ALS). Mutations in TARDBP gene are responsible for 4–5% of familial ALS (fALS) and nearly 1% of sporadic ALS (sALS). To date, over 50 dominant mutations were found in TDP-43 in both familial and sporadic ALS patients, most of which were missense mutations in the C-terminal glycine-rich region. Herein, we describe the clinical and genetic analysis of an Italian non-familial ALS patient with a late onset and a rapid disease progression, which led to the discovery of a novel TARDBP mutation. After neurological evaluation, molecular investigation highlighted t…
Mathematical simulation of Doppler changes in late-onset smallness; progression patterns of cerebral and umbilical anomalies define two types of late…
2019
To evaluate the progression of Doppler abnormalities in fetuses with late-onset fetal smallness (SGA) that become growth restricted (FGR).524 Doppler examinations of the umbilical and cerebral arteries systems, belonging to 442 late-onset SGA fetuses after week 34, were studied, evaluating by means of the statistical difference with the respective abnormal centiles, the pattern of progression into abnormal Doppler values and the distribution and cumulative sum of Doppler anomalies according to the interval to delivery.Only one third (33.5%,Two thirds of late-onset fetal smallness occurs without hemodynamic changes. In half of the remaining cases an initial cerebral vasodilation defines a gr…
Response to Letter to the Editor: Outcome of Bleb Revision With Autologous Conjunctival Graft Alone or Combined With Donor Scleral Graft for Late-ons…
2021
Early onset of depression and treatment outcome in patients with major depressive disorder
2021
Major depressive disorder (MDD) is a highly heterogeneous disorder, which may partly explain why treatment outcome using antidepressants is unsatisfactory. We investigated the onset of depression as a possible clinical marker for therapy response prediction in the context of somatic biomarkers blood pressure and plasma electrolyte concentration. 889 MDD patients were divided into early (EO, n = 226), intermediate (IO, n = 493), and late onset (LO, n = 169) patients and were analyzed for differences in socio-demographic and clinical parameters, comorbidities and treatment outcome as well as systolic blood pressure and electrolytes. EO patients more often suffered from a recurrent depression,…
Delayed-onset bleb-related endophthalmitis caused by Moraxella nonliquefaciens.
2020
Bleb-related endophthalmitis is rare and appears months or years after surgery. The causative agents are usually streptococci or gram-negative bacteria. There are few cases in the literature of endophthalmitis caused by Moraxella nonliquefaciens, and most are delayed-onset associated with blebitis after glaucoma filtration surgery. The case is presented of a 90-year-old patient with endophthalmitis in the right eye due to Moraxella nonliquefaciens associated with blebitis 10 years after glaucoma surgery. After treatment, disappearance of blebitis is observed 2weeks later and resolution of vitritis 29 days later, with recovery of vision to previous values (20/200). Endophthalmitis due to Mor…
Pathogenesis and treatment of hirsutism in late-onset congenital adrenal hyperplasia
1995
Late-onset or nonclassic hyperandrogenic congenital adrenal hyperplasia (CAH) is an attenuated deficiency of 21-hydroxylase, 3β-ol-hydroxysteroid dehydrogenase or 11β-hydroxylase which presents during childhood or adolescence and leads to an increased secretion of adrenal androgens. Many reviews of the genetic or hormonal characteristics of these syndromes have been published, but relatively little attention has been paid to the pathogenesis and treatment of hirsutism which, in most young women, is the main complaint. In fact, it is generally assumed that the hirsutism is strictly related to the increased secretion of adrenal androgens and that glucocorticoids are the treatment of choice. H…