Abstract:
:Alpha-mannosidosis is a rare lysosomal storage disorder that generally presents in early childhood. It is a progressive, highly heterogeneous disease that is difficult to recognize, and a diagnosis is usually reached after referrals to multiple specialists. It is important to understand the challenges faced by patients and their caregiver up to and after a diagnosis of alpha-mannosidosis. In this report, we describe the process of alpha-mannosidosis diagnosis and treatment from the caregivers' and physicians' perspectives. For the caregivers' perspective, the mothers of two patients with alpha-mannosidosis ('Adele' aged 35 years and 'Amedeo' aged 40 years) were interviewed in their homes in Italy, and anonymized transcripts were used to describe their experiences. Adele lived in a large city with access to hospitals and specialized centers and was diagnosed with alpha-mannosidosis before 3 years of age. Amedeo was from a small village and was diagnosed when he was 10-11 years old. In both cases, their mothers sought help from pediatricians and other specialists for recurrent infections and delayed speech and motor development in the first years of their lives, but diagnosis was delayed. Although the diagnostic pathway was concerning and frustrating for her mother, Adele was able to live at home and receive multidisciplinary care and psychosocial support locally, but the transition from pediatric to adult services was difficult. She is currently waiting for access to enzyme replacement therapy. Amedeo had to travel widely and frequently to receive a diagnosis and access supportive treatment. The cumulative morbidity resulting from the delays and poor access to care necessitated long-term residential care. From the physicians' perspective, greater awareness of alpha-mannosidosis is required among healthcare professionals and more support is needed for patients and caregivers, particularly those living in rural areas or small centers.
journal_name
Adv Therjournal_title
Advances in therapyauthors
Verrecchia E,Sicignano LL,Massaro MG,Rocco R,Silvestri G,Rossi S,Manna Rdoi
10.1007/s12325-020-01574-wsubject
Has Abstractpub_date
2020-11-24 00:00:00eissn
0741-238Xissn
1865-8652pii
10.1007/s12325-020-01574-wpub_type
杂志文章abstract:INTRODUCTION:The present study aimed to identify preoperative factors that predispose the development of subretinal fluid (SRF) following successful macular hole (MH) surgery. METHODS:Thirty-four eyes of 33 consecutive patients that underwent pars plana vitrectomy for idiopathic full-thickness MH surgery were included...
journal_title:Advances in therapy
pub_type: 杂志文章
doi:10.1007/s12325-015-0227-z
更新日期:2015-07-01 00:00:00
abstract:INTRODUCTION:The European Medicines Agency (EMA) requires vaccine manufacturers to conduct enhanced safety surveillance (ESS) of seasonal influenza vaccines including a near real-time evaluation of collected data. The objective was to identify whether the use of passive surveillance or active surveillance provides diff...
journal_title:Advances in therapy
pub_type: 杂志文章
doi:10.1007/s12325-018-0747-4
更新日期:2018-08-01 00:00:00
abstract::Endophthalmitis is an intraocular inflammatory condition which may or may not be caused by infective agents. Noninfectious (sterile) endophthalmitis may be attributable to various causes including postoperative retained soft lens matter or toxicity following introduction of other agents into the eye. Infectious endoph...
journal_title:Advances in therapy
pub_type: 杂志文章,评审
doi:10.1007/s12325-016-0307-8
更新日期:2016-05-01 00:00:00
abstract::The article "Sleep Quality and Congestion with Breathe Right Nasal Strips: Two Randomized Controlled Trials", written by Michael J. Noss, Renee Ciesla, and Gilbert Shanga, was originally published electronically on the publisher's internet portal (currently SpringerLink) on June 17, 2019 without Open Access. The artic...
journal_title:Advances in therapy
pub_type: 已发布勘误
doi:10.1007/s12325-019-01069-3
更新日期:2019-11-01 00:00:00
abstract::X-linked hypophosphataemia (XLH) is the most prevalent form of hereditary rickets characterized by an alteration of phosphate metabolism which frequently leads to the appearance of fractures, bone deformities and growth delay. Although the mechanism of growth impairment in patients with XLH still needs to be clarified...
journal_title:Advances in therapy
pub_type: 杂志文章,评审
doi:10.1007/s12325-019-01178-z
更新日期:2020-05-01 00:00:00
abstract::Data from the Framingham Heart Study and risk-appraisal models were used to develop a Coronary Heart Disease (CHD) Risk Factor Calculator for early identification of high-risk individuals. The Calculator was tested at an employee health fair for a large northeastern US corporation. Of the 590 employees who registered ...
journal_title:Advances in therapy
pub_type: 杂志文章
doi:10.1007/BF02850248
更新日期:2001-01-01 00:00:00
abstract::This prospective study was performed to determine whether gentamicin can be prescribed routinely to patients with spinal cord injury undergoing urologic procedures, or whether antibiotic therapy must be selected on the basis of recent urine microbiologic test results. Between January 2004 and June 2005, procedures wer...
journal_title:Advances in therapy
pub_type: 临床试验,杂志文章
doi:10.1007/BF02850350
更新日期:2006-01-01 00:00:00
abstract:INTRODUCTION:Rhegmatogenous retinal detachment (RRD) with extensive choroidal detachment (CD), suprachoroidal fluid (SCF), and lower intraocular pressure (IOP) markedly increase the difficulty of pars plana vitrectomy (PPV) because it makes the insertion and placement of the trocar cannulas for PPV time-consuming and t...
journal_title:Advances in therapy
pub_type: 杂志文章
doi:10.1007/s12325-018-0801-2
更新日期:2019-01-01 00:00:00
abstract::The extensive use of angiotensin-converting enzyme inhibitors (ACEIs) as antihypertensive agents and the huge amount of data collected in clinical trials and post-marketing studies has allowed the extending of the indication of ACEIs beyond blood pressure control. Current guidelines recommend ACEIs in symptomatic pati...
journal_title:Advances in therapy
pub_type: 杂志文章,评审
doi:10.1007/s12325-020-01455-2
更新日期:2020-10-01 00:00:00
abstract::In a randomized, controlled, double-blind trial, 70 patients (mean age, 49.7 years) suffering from mild to moderate depression received one tablet of either St. John's Wort (Hypericum perforatum) extract (Calmigen) or fluoxetine hydrochloride (Prozac) twice a day for 6 weeks. Efficacy was determined according to the 1...
journal_title:Advances in therapy
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/BF02850017
更新日期:2002-01-01 00:00:00
abstract:BACKGROUND:The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) outbreak is a serious health concern. Repurposing of existing drugs indicated for other conditions seems to be the first choice for immediate therapeutic management. The quality of early evidence favoring the different treatment options needs t...
journal_title:Advances in therapy
pub_type: 杂志文章
doi:10.1007/s12325-020-01460-5
更新日期:2020-10-01 00:00:00
abstract:BACKGROUND:Naproxen is an NSAID with documented efficacy in pain management; however, it is associated with serious dose-related adverse events. A lower-dose naproxen drug product with comparable efficacy to commercially available naproxen could address these concerns. We studied the efficacy and safety of naproxen sub...
journal_title:Advances in therapy
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1007/s12325-013-0057-9
更新日期:2013-10-01 00:00:00
abstract::Combination therapies are a widely accepted approach to type 2 diabetes treatment, considering that monotherapies fail to provide adequate glycemic control in the majority of cases. The combination of oral antidiabetic agents into a single tablet would significantly simplify the therapeutic regimen and maximize patien...
journal_title:Advances in therapy
pub_type: 杂志文章,评审
doi:10.1007/s12325-012-0067-z
更新日期:2012-12-01 00:00:00
abstract:INTRODUCTION:The Medicare Part D prescription plan has a coverage gap from $2250 to $5100 per year (2006 thresholds) in which patients pay full drug costs (the "donut hole"). We examined prescription costs in patients aged >or=65 years with atrial fibrillation (AF), and the proportions entering/exiting the donut hole i...
journal_title:Advances in therapy
pub_type: 杂志文章
doi:10.1007/s12325-009-0054-1
更新日期:2009-08-01 00:00:00
abstract::In the past 15 years, improvements in the treatment of HIV infection have dramatically reduced morbidity and mortality. Nucleoside reverse transcriptase inhibitors are the backbone of combination antiretroviral therapy for the treatment of HIV. One of the recommended and commonly used therapies in this class is the on...
journal_title:Advances in therapy
pub_type: 杂志文章,评审
doi:10.1007/s12325-010-0006-9
更新日期:2010-01-01 00:00:00
abstract:BACKGROUND:Studies assessing the effect of high dose tigecycline on severe infections are limited and remain controversial. OBJECTIVES:To assess systematically the effectiveness and safety of high dose tigecycline in the treatment of severe infections. METHODS:Pubmed, Web of Science, Embase, MEDLINE, Cochrane Library...
journal_title:Advances in therapy
pub_type: 杂志文章,meta分析
doi:10.1007/s12325-020-01235-y
更新日期:2020-03-01 00:00:00
abstract:INTRODUCTION:Repository corticotropin injection (RCI; H.P. Acthar® Gel; Mallinckrodt Pharmaceuticals Inc., Hampton, NJ) is a highly purified, prolonged-release porcine preparation of adrenocorticotropic hormone (ACTH) analogue that is FDA-approved for treatment of 19 autoimmune and inflammatory disorders. The diverse p...
journal_title:Advances in therapy
pub_type: 杂志文章,评审
doi:10.1007/s12325-017-0569-9
更新日期:2017-08-01 00:00:00
abstract:INTRODUCTION:Acute gastrointestinal bleeding (GIB) is a major cause of death in liver cirrhosis. This multicenter study aims to develop and validate a novel and easy-to-access model for predicting the prognosis of patients with cirrhosis and acute GIB. METHODS:Patients with cirrhosis and acute GIB were enrolled and ra...
journal_title:Advances in therapy
pub_type: 杂志文章,多中心研究
doi:10.1007/s12325-019-01083-5
更新日期:2019-11-01 00:00:00
abstract::This 4-week double-blind, placebo-controlled study assessed the efficacy of impulse magnetic-field therapy for insomnia. One hundred one patients were randomly assigned to either active treatment (n = 50) or placebo (n = 51) and allocated to one of three diagnostic groups: (1) sleep latency; (2) interrupted sleep; or ...
journal_title:Advances in therapy
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/BF02850111
更新日期:2001-07-01 00:00:00
abstract:INTRODUCTION:The 21-gene breast cancer assay (Oncotype DX(®); Genomic Health, Inc.) is a validated diagnostic test that predicts the likelihood of adjuvant chemotherapy benefit and 10-year risk of distant recurrence in patients with hormone-receptor-positive, human epidermal growth receptor 2-negative, early-stage brea...
journal_title:Advances in therapy
pub_type: 杂志文章
doi:10.1007/s12325-015-0190-8
更新日期:2015-03-01 00:00:00
abstract:INTRODUCTION:Oxycodone is one of the most commonly used opioid analgesics in the clinical management of pain. The present retrospective analysis aimed to determine the dose of oxycodone that could achieve effective control of moderate pain when combined with a fixed dose of acetaminophen, and the time required to reach...
journal_title:Advances in therapy
pub_type: 杂志文章
doi:10.1007/s12325-016-0339-0
更新日期:2016-06-01 00:00:00
abstract:INTRODUCTION:This study aimed to compare the challenge of puncture and catheterization and the effect of postoperative analgesia of ultrasound-guided continuous thoracic paravertebral block and the continuous epidural analgesia in patients receiving thoracoscopic surgery for lung cancer. METHODS:One-hundred and fifty ...
journal_title:Advances in therapy
pub_type: 杂志文章
doi:10.1007/s12325-020-01446-3
更新日期:2020-09-01 00:00:00
abstract::In the original article, the The VISIONARY Study Group Principal Investigator Jose Javier Garcia-Medina. ...
journal_title:Advances in therapy
pub_type: 杂志文章,已发布勘误
doi:10.1007/s12325-020-01407-w
更新日期:2020-08-01 00:00:00
abstract::The aims of this study were to determine whether the nursing costs of functional disability could be assessed retrospectively and, if so, whether this method was sensitive enough to show the influence of a treatment on economic costs. Four studies were available for this purpose: three randomized, double-blind, place...
journal_title:Advances in therapy
pub_type: 杂志文章
doi:
更新日期:1993-09-01 00:00:00
abstract::In an open, controlled study, 44 patients complaining of vertigo, dizziness, or both, caused by vascular vestibular disorders were randomly treated with extract of Ginkgo biloba (EGb 761) 80 mg twice daily or with betahistine dihydrochloride (BI) 16 mg twice daily for 3 months. A complete neuro-otologic and equilibrim...
journal_title:Advances in therapy
pub_type: 临床试验,杂志文章
doi:
更新日期:1998-09-01 00:00:00
abstract:INTRODUCTION:Video-assisted thoracic surgery (VATS) lung resections are complex procedures with a critical role played by endoscopic staplers in the transection of vessels, bronchi, and lung tissue. This retrospective, observational study compared hospital resource use, costs, and complications of VATS lobectomy proced...
journal_title:Advances in therapy
pub_type: 杂志文章
doi:10.1007/s12325-018-0679-z
更新日期:2018-05-01 00:00:00
abstract::In the last few years, immunotherapy has transformed the way we treat solid tumors, including melanoma, lung, head neck, breast, renal, and bladder cancers. Durable responses and long-term survival benefit has been experienced by many cancer patients, with favorable toxicity profiles of immunotherapeutic agents relati...
journal_title:Advances in therapy
pub_type: 杂志文章,评审
doi:10.1007/s12325-019-01051-z
更新日期:2019-10-01 00:00:00
abstract::There has been increased interest in gout in both academic and clinical practice settings. Several reasons may explain this. The prevalence of both hyperuricemia and gout has risen in the last decades in developed countries and therefore the burden of gout has increased. The association of hyperuricemia and gout with ...
journal_title:Advances in therapy
pub_type: 杂志文章,评审
doi:10.1007/s12325-014-0175-z
更新日期:2015-01-01 00:00:00
abstract::Endocrine therapy (ET) is integral to the treatment of hormone receptor-positive (HR+), human epidermal growth factor receptor 2-negative (HER2-) metastatic breast cancer (MBC). Aromatase inhibitors (AIs; e.g., anastrozole, letrozole, exemestane), selective estrogen receptor modulators (e.g., tamoxifen), and the selec...
journal_title:Advances in therapy
pub_type: 杂志文章,评审
doi:10.1007/s12325-020-01552-2
更新日期:2020-11-15 00:00:00
abstract:INTRODUCTION:Transient hepatic attenuation differences (THAD) are areas of high parenchymal enhancement observed during the hepatic arterial phase on computed tomography (CT). THAD in the left lobe of the liver can lead to surgical complications. METHODS:A retrospective study was conducted on patients who underwent mu...
journal_title:Advances in therapy
pub_type: 杂志文章
doi:10.1007/s12325-020-01428-5
更新日期:2020-09-01 00:00:00