Caregivers' and Physicians' Perspectives on Alpha-Mannosidosis: A Report from Italy.

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 Ther

journal_title

Advances in therapy

authors

Verrecchia E,Sicignano LL,Massaro MG,Rocco R,Silvestri G,Rossi S,Manna R

doi

10.1007/s12325-020-01574-w

subject

Has Abstract

pub_date

2020-11-24 00:00:00

eissn

0741-238X

issn

1865-8652

pii

10.1007/s12325-020-01574-w

pub_type

杂志文章
  • Persistent Subretinal Fluid After Successful Full-Thickness Macular Hole Surgery: Prognostic Factors, Morphological Features and Implications on Functional Recovery.

    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

    authors: Tranos PG,Stavrakas P,Vakalis AN,Asteriadis S,Lokovitis E,Konstas AG

    更新日期:2015-07-01 00:00:00

  • Enhanced Safety Surveillance of Seasonal Quadrivalent Influenza Vaccines in English Primary Care: Interim Analysis.

    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

    authors: de Lusignan S,Dos Santos G,Byford R,Schuind A,Damaso S,Shende V,McGee C,Yonova I,Ferreira F

    更新日期:2018-08-01 00:00:00

  • Current Perspectives of Prophylaxis and Management of Acute Infective Endophthalmitis.

    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

    authors: Tranos P,Dervenis N,Vakalis AN,Asteriadis S,Stavrakas P,Konstas AG

    更新日期:2016-05-01 00:00:00

  • Correction to: Sleep Quality and Congestion with Breathe Right Nasal Strips: Two Randomized Controlled Trials.

    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

    authors: Noss MJ,Ciesla R,Shanga G

    更新日期:2019-11-01 00:00:00

  • X-Linked Hypophosphataemic Rickets and Growth.

    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

    authors: Santos Rodríguez F

    更新日期:2020-05-01 00:00:00

  • Population-based screening with the Coronary Heart Disease Risk Factor Calculator.

    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

    authors: Day D

    更新日期:2001-01-01 00:00:00

  • Antibiotic therapy for patients with spinal cord injury undergoing urologic procedures.

    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

    authors: Vaidyanathan S,Soni BM

    更新日期:2006-01-01 00:00:00

  • Systemic Approach to Prevent Inadvertent Perfusion in Eyes with Extensive Choroidal Detachment, Suprachoroidal Fluid, and Hypotony During Pars Plana Vitrectomy.

    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

    authors: Zhang Z,Fang D,Peng M,Wei Y,Wang L,Fan S,Zhang S

    更新日期:2019-01-01 00:00:00

  • Angiotensin-Converting Enzyme Inhibition: Beyond Blood Pressure Control-The Role of Zofenopril.

    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

    authors: Borghi C,Omboni S

    更新日期:2020-10-01 00:00:00

  • Hypericum perforatum versus fluoxetine in the treatment of mild to moderate depression.

    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

    authors: Behnke K,Jensen GS,Graubaum HJ,Gruenwald J

    更新日期:2002-01-01 00:00:00

  • Perspectives on the Early Quality of Evidence Guiding the Therapeutic Management of SARS-CoV-2: A Systematic Literature Review.

    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

    authors: Subramanian K,Nalli A,Senthil V,Jain S,Nayak A,Bhat A

    更新日期:2020-10-01 00:00:00

  • A phase 2 study of naproxen submicron particle capsules in patients with post-surgical dental pain.

    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

    authors: Young CL,Strand V,Altman R,Daniels S

    更新日期:2013-10-01 00:00:00

  • Linagliptin/Metformin fixed-dose combination treatment: a dual attack to type 2 diabetes pathophysiology.

    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

    authors: Koliaki C,Doupis J

    更新日期:2012-12-01 00:00:00

  • National assessment of Medicare prescription plan coverage gaps among patients with atrial fibrillation in the US.

    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

    authors: Kim MH,Lin J,Kreilick C

    更新日期:2009-08-01 00:00:00

  • Abacavir/lamivudine fixed-dose combination antiretroviral therapy for the treatment of HIV.

    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

    authors: Achenbach CJ,Scarsi KK,Murphy RL

    更新日期:2010-01-01 00:00:00

  • Effectiveness and Safety of High Dose Tigecycline for the Treatment of Severe Infections: A Systematic Review and Meta-Analysis.

    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

    authors: Zha L,Pan L,Guo J,French N,Villanueva EV,Tefsen B

    更新日期:2020-03-01 00:00:00

  • Clinical and Economic Evaluation of Repository Corticotropin Injection: A Narrative Literature Review of Treatment Efficacy and Healthcare Resource Utilization for Seven Key Indications.

    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

    authors: Philbin M,Niewoehner J,Wan GJ

    更新日期:2017-08-01 00:00:00

  • Development and Validation of CAGIB Score for Evaluating the Prognosis of Cirrhosis with Acute Gastrointestinal Bleeding: A Retrospective Multicenter Study.

    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

    authors: Bai Z,Li B,Lin S,Liu B,Li Y,Zhu Q,Wu Y,Yang Y,Tang S,Meng F,Chen Y,Yuan S,Shao L,Qi X

    更新日期:2019-11-01 00:00:00

  • Impulse magnetic-field therapy for insomnia: a double-blind, placebo-controlled study.

    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

    authors: Pelka RB,Jaenicke C,Gruenwald J

    更新日期:2001-07-01 00:00:00

  • Cost-effectiveness of the 21-gene breast cancer assay in Mexico.

    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

    authors: Bargalló-Rocha JE,Lara-Medina F,Pérez-Sánchez V,Vázquez-Romo R,Villarreal-Garza C,Martínez-Said H,Shaw-Dulin RJ,Mohar-Betancourt A,Hunt B,Plun-Favreau J,Valentine WJ

    更新日期:2015-03-01 00:00:00

  • Retrospective Evaluation of a Fixed-Dose Combination of Oxycodone and Acetaminophen to Manage Moderate Pain: The Lower the Better.

    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

    authors: Natoli S,Lazzari M,Carpenedo R,Palombo E,Silvi MB,Mammucari M,Dauri M

    更新日期:2016-06-01 00:00:00

  • A Comparison of Analgesia After a Thoracoscopic Lung Cancer Operation with a Sustained Epidural Block and a Sustained Paravertebral Block: A Randomized Controlled Study.

    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

    authors: Huang QW,Li JB,Huang Y,Zhang WQ,Lu ZW

    更新日期:2020-09-01 00:00:00

  • Correction to: Treatment of Open-Angle Glaucoma and Ocular Hypertension with Preservative-Free Tafluprost/Timolol Fixed-Dose Combination Therapy: The VISIONARY Study.

    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

    authors: Oddone F,Tanga L,Kóthy P,Holló G,VISIONARY Study Group.

    更新日期:2020-08-01 00:00:00

  • Retrospective estimate of the nursing cost of autonomy impairment and cost benefit in clinical trials: feasibility and application of piracetam in demented elderly patients.

    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:

    authors: Vlietinck R,Van Loon H,Van de Broele H,Tormans G

    更新日期:1993-09-01 00:00:00

  • Ginkgo biloba (EGb 761) in the treatment of equilibrium disorders.

    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:

    authors: Cesarani A,Meloni F,Alpini D,Barozzi S,Verderio L,Boscani PF

    更新日期:1998-09-01 00:00:00

  • Impact of Powered and Tissue-Specific Endoscopic Stapling Technology on Clinical and Economic Outcomes of Video-Assisted Thoracic Surgery Lobectomy Procedures: A Retrospective, Observational Study.

    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

    authors: Miller DL,Roy S,Kassis ES,Yadalam S,Ramisetti S,Johnston SS

    更新日期:2018-05-01 00:00:00

  • Existing and Emerging Biomarkers for Immune Checkpoint Immunotherapy in Solid Tumors.

    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

    authors: Arora S,Velichinskii R,Lesh RW,Ali U,Kubiak M,Bansal P,Borghaei H,Edelman MJ,Boumber Y

    更新日期:2019-10-01 00:00:00

  • A review of uric acid, crystal deposition disease, and gout.

    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

    authors: Perez-Ruiz F,Dalbeth N,Bardin T

    更新日期:2015-01-01 00:00:00

  • Clinical Challenges in the Management of Hormone Receptor-Positive, Human Epidermal Growth Factor Receptor 2-Negative Metastatic Breast Cancer: A Literature Review.

    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

    authors: Nagaraj G,Ma CX

    更新日期:2020-11-15 00:00:00

  • Multislice Computed Tomographic Manifestation of Transient Hepatic Attenuation Difference in the Left Lobe of the Liver: A Retrospective Study.

    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

    authors: Yang B,Si G,He Q,Liu S,Wang S,Xian R,Zhang J,Yu F,Guan J

    更新日期:2020-09-01 00:00:00