Search results for " atrophy"
showing 10 items of 209 documents
G.P.232
2014
Spinal muscular atrophy (SMA) and Pompe disease (PD) are common neuromuscular disorders during childhood causing progressive weakness of proximal muscles with gait disturbances, loss of ambulation and breathing difficulties. Whereas SMA is the result of a neurogenic atrophy caused by mutations in the SMN1 gene, PD is a lysosomal glycogen storage disease (type II) due to mutations of the GAA gene responsible for the enzyme activity of acid alpha-1,4-glucosidase. PD is treatable by enzyme replacement therapy, but in SMA there is no established curable therapy. We report on a child with genetically proven SMA type III and PD caused by mutations in the SMN1 and GAA genes. A 3 years old girl pre…
Predictors of testicular viability in testicular torsion
2007
Abstract Aim Testicular torsion (TT) requires prompt diagnosis and treatment to avoid testicular loss. Most studies have focused on the ideal work up to rule TT out in cases of acute scrotum. We attempted here to define objective criteria to select between orchidopexy and orchidectomy in patients undergoing surgery for TT. Patients and methods Fifteen boys with a median age at presentation of 7.8 (range 6.4–12) years undergoing surgical treatment for TT underwent color-Doppler ultrasound (CDU) preoperatively, and a bleeding test intraoperatively. Duration of preoperative history, degree of torsion, CDU findings and degree of bleeding were analyzed. Results Salvageability was independent of …
<p>Multimodal Evaluation of Visual Function in Geographic Atrophy versus Normal Eyes</p>
2020
Purpose To comprehensively evaluate visual function in eyes with geographic atrophy (GA) as compared to normal eyes. Patients and Methods Sixty-three eyes from 63 patients ≥50 years old were recruited for this observational study; 31 were identified as normal macular health eyes and 32 with GA. Visual function was tested with best corrected visual acuity (BCVA), low luminance visual acuity (LLVA), low luminance deficit (LLD), reading speed, macular integrity microperimetry, fixation stability, and contrast sensitivity function (CSF). Anatomic function was evaluated with spectral-domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF). Quality of life and vision were a…
Vulvo-vaginal atrophy: A new treatment modality using thermo-ablative fractional CO2 laser.
2015
a b s t r a c t Objective: To evaluate the efficacy and feasibility of thermo-ablative fractional CO2 laser for the treatment of symptoms related to vulvo-vaginal atrophy (VVA) in post-menopausal women. Methods: From April 2013 to December 2013, post-menopausal patients who complained of one or more VVA-related symptoms and who underwent vaginal treatment with fractional CO2 laser were enrolled in the study. At baseline (T0) and 30 days post-treatment (T1), vaginal status of the women was evaluated using the Vaginal Health Index (VHI), and subjective intensity of VVA symptoms was evaluated using a visual analog scale (VAS). At T1, treatment satisfaction was evaluated using a 5-point Likert …
Distinct Incidence of Takotsubo Syndrome Between Amyotrophic Lateral Sclerosis and Synucleinopathies : A Cohort Study
2018
Takotsubo syndrome (TTS) is an acute cardiac syndrome characterized by regional left ventricular dysfunction with a peculiar circumferential pattern, which typically results in apical ballooning. Evidence indicates a pivotal role of catecholamines in TTS, and researchers have discussed multiple hypotheses on the etiology, including multivessel coronary spasm, myocardial stunning, excessive transient ventricular afterload, and cardiac sympathetic overactivity with local noradrenaline spillover. Although central nervous system disorders, such as stroke and epilepsy, are known to trigger TTS, the incidence and clinical features of TTS in neurodegenerative disorders are poorly understood. Here,…
Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy
2021
ABSTRACTObjectiveTo assess in adult spinal muscular atrophy (SMA) patients the construct validity and responsiveness of several outcome measures.MethodsPatients older than 15 years and followed-up at least for 6 months, between October 2015 and August 2020, with one motor function scale (Hammersmith Functional Motor Scale Expanded, HFMSE; Revised Upper Limb module, RULM) in five referral centers were included. Bedside functional scales (Egen Klassification, EK2; Revised Amyotrophic Lateral Sclerosis Functional Rating Scale, ALSFRS-R) were also collected when available. Correlations and regression models were performed to evaluate the construct validity. The monthly slopes of change were use…
Morphea en coup de sabre and hemifacial atrophy in an interdisciplinary approach
2020
The increase in the degree of fluctuation asymmetry is accompanied, among others, by diseases such as morphea en coup de sabre (morphea ECDS) or Parry‑Romberg syndrome (PHA). Patients suffering from them struggle not only with dermatological defects, but also with neurological, rheumatological, orthopedic, ophthalmological and dental symptoms. Morphological and functional disorders and craniofacial deformities related to them often generate psychosocial problems. The complexity of the issues to be solved proves the necessity of undertaking interdisciplinary actions aimed at developing objective diagnostic and therapeutic protocols, restoring (especially in pediatric patients) as close as po…
A case-control study on risk factors for nuclear, cortical and posterior subcapsular cataract: The Casteldaccia Eye Study
2005
. Purpose: To investigate risk factors for nuclear, cortical and posterior subcapsular age-related cataract. Methods: A case-control study was carried out on subjects aged 40 years and older, living in Casteldaccia, Sicily. Twenty-seven potential risk factors were investigated. Nuclear, cortical and posterior subcapsular opacities of the lens were classified according to the Lens Opacities Classification System II. Subjects with advanced lens opacities represented the cases, while an identical number of subjects without or with early cataract, matched for sex and age, were recruited as controls from within the same population. Results: Univariate analysis showed that myopia and iris atrophy…
Oxidative Stress and Ubiquitin Ligases: their involvement in skeletal muscle atrophy
2015
Introduction Muscle atrophy plays a relevant role in the many very prevalent diseases. Generation of reactive oxygen species (mainly by the xanthine oxidase) and inflammation are two of the main triggers of muscle atrophy. Aim The major aim of our study was to determine the mechanism by which reactive oxygen species activate E3 ubiquitin ligases (MuRF-1 and MAFbx) cause muscle atrophy. Possible prevention by allopurinol, a well-known xanthine oxidase inhibitor widely used in clinical practice; and by indomethacin, a non-steroidal antiinflamatory drug was also studied. Materials and methods Male C57BL/6J mice (3 months old) conditioned by 14 days of hindlimb unloading with or without each tr…
Ibandronic acid subsequent to raloxifene: Effect on bone metabolism and on cardiovascular risk factors
2015
s / Maturitas 81 (2015) 144–190 161 Materials andmethods: This randomized double-blind clinical trialwas carried out inAhvaz (Iran) fromAugust toDecember 2010. Forty postmenopausal women with symptoms of vaginal atrophy were randomly allocated to two groups to take vaginal suppositories of either 5mg hyaluronic acid sodium salt (n=20) or 1mg vitamin E (n=20) for 8 weeks. The symptoms of vaginal atrophy were evaluated by a self-assessed 4-point scale and the composite score was determined as none, mild, moderate, and severe in four periods. Results: The results showed that the symptoms were relieved significantly in both groups (P<0.001). The relief of symptomswas significantly superior in t…