更新于：2024-11-01

Occult Macular Dystrophy

隐匿性黄斑营养不良

更新于：2024-11-01

基本信息

别名

OCCULT MACULAR DYSTROPHY、OCMD、OCMD - occult macular dystrophy

+ [7]

简介

A rare genetic retinal dystrophy disease with characteristics of bilateral progressive decline of visual acuity due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms. There is evidence the disease is caused by heterozygous mutation in the RP1L1 gene on chromosome 8p23.

关联

项与隐匿性黄斑营养不良相关的药物

AbobotulinumtoxinA (Ipsen Biopharm Ltd)

A型肉毒杆菌毒素（Ipsen Biopharm Ltd）

靶点

SNAP25

作用机制

SNAP25 抑制剂

在研机构

原研机构

在研适应症

非在研适应症

最高研发阶段批准上市

首次获批国家/地区

法国

首次获批日期2009-01-28

Ranibizumab (Genentech)

雷珠单抗

靶点

VEGF-A

作用机制

VEGF-A抑制剂

在研机构

Hoffmann-La Roche, Inc. [+9]

原研机构

Genentech, Inc.

在研适应症

早产儿视网膜病变 [+8]

非在研适应症

水疱 [+28]

最高研发阶段批准上市

首次获批国家/地区

美国

首次获批日期2006-06-30

项与隐匿性黄斑营养不良相关的临床试验

JPRN-UMIN000018565 / RecruitingN/AIIT

Genetic testing for Japanese retinitis pigmentosa and related diseases - Genetic testing for Japanese retinitis pigmentosa and related diseases

开始日期2015-09-01

申办/合作机构-

NCT01921270 / Completed临床1/2期IIT

A Pilot Dose Ranging Study of Dysport® (AbobotulinumtoxinA) in the Treatment of Oromandibular Dystonia

The purpose of this study is to study the efficacy and safety of AbobotulinumtoxinA (Dysport) for use in Oromandibular Dystonia (OMD).

开始日期2013-08-01

申办/合作机构

Emory University

[+1]

NCT00347906 / TerminatedN/AIIT

Photodynamic Therapy Versus Transpupillary Thermotherapy in Occult CNV in Age-related Macular Degeneration

The purpose of this study is to compare the effect of PDT and TTT for the treatment of subfoveal occult CNV in age-related macular degeneration.

开始日期2003-11-01

申办/合作机构

林雪平大学

100 项与隐匿性黄斑营养不良相关的临床结果

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100 项与隐匿性黄斑营养不良相关的转化医学

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0 项与隐匿性黄斑营养不良相关的专利（医药）

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664

项与隐匿性黄斑营养不良相关的文献（医药）

2024-12-31·International Journal of Hyperthermia

Omental metastases in patients with pseudomyxoma peritonei or colorectal peritoneal metastases – is routine omentectomy justified?

Article

作者: Enblad, Malin ; Ghanipour, Lana ; Cashin, Peter ; Graf, Wilhelm ; Birgisson, Helgi

BACKGROUNDThe greater omentum is routinely resected during cytoreductive surgery (CRS), but few studies have analyzed the rationale behind this. This study aimed to assess the prevalence of omental metastases (OM) and the correlation between macroscopically suspected and microscopically confirmed OM, in patients with pseudomyxoma peritonei (PMP) or colorectal peritoneal metastases (PM).METHODAll patients without previous omentectomy, treated with initial CRS and hyperthermic intraperitoneal chemotherapy for PMP or colorectal PM, at Uppsala University Hospital in 2013-2021, were included. Macroscopic OM in surgical reports was compared with histopathological analyses.RESULTSIn all, 276 patients were included. In those with PMP, 112 (98%) underwent omentectomy and 67 (59%) had macroscopic suspicion of OM. In 5 (4%) patients, the surgeon was uncertain. Histopathology confirmed OM in 81 (72%). In patients with macroscopic suspicion, 96% had confirmed OM (positive predictive value, PPV). In patients with no suspicion, 24% had occult OM (negative predictive value, NPV = 76%). In patients with colorectal PM, 156 (96%) underwent omentectomy and 97 (60%) had macroscopic suspicion. For 5 (3%) patients, the surgeon was uncertain. OM was microscopically confirmed in 90 (58%). PPV was 85% and NPV was 89%. The presence of OM was a univariate risk factor for death in PMP (HR 3.62, 95%CI 1.08-12.1) and colorectal PM (HR 1.67, 95%CI 1.07-2.60), but not in multivariate analyses.CONCLUSIONOM was common and there was a high risk of missing occult OM in both PMP and colorectal PM. These results support the practice of routine omentectomy during CRS.

2024-10-01·Current opinion in pediatrics

Diastolic dysfunction: assessment and implications on the single ventricle circulation.

Review

作者: Friedberg, Mark K ; Van De Bruaene, Alexander ; Hassan, Ahmed A

PURPOSE OF REVIEWPatients with a functionally single ventricle (SV) are palliated with a series of procedures leading to a Fontan circulation. Over the life span, a substantial proportion of SV patients develop heart failure that can arise from circulatory or ventricular failure. Diastolic dysfunction (DD) is an important determinant of adverse outcomes in SV patients. However, assessment and categorization of DD in the SV remains elusive. We review recent literature and developments in assessment of DD in the SV and its relation to clinical outcomes.RECENT FINDINGSDD is prevalent in the SV and associated with worse outcomes. Occult DD can be exposed with provocative testing by exercise or preload challenge during catheterization. Likewise, sensitivity to detect DD may be increased via assessment of atrial function and strain imaging. Recent studies revisiting previous concepts such as incoordinate diastolic wall motion show that these are associated with SV end-diastolic pressures and post-Fontan recovery, yielding accessible DD assessment. Emerging technologies such as ultrafast ultrasound (UFUS) can provide noninvasive assessment of myocardial stiffness, inefficient diastolic flow patterns and intraventricular pressure gradients, thereby yielding new tools and insights into diastolic myocardial and hemodynamic properties.SUMMARYCharacterizing DD in the SV continues to have substantial limitations, necessitating synthesis of multiple parameters into an overall assessment, accounting for their change over time, and in the context of the patient's clinical status. New and emerging techniques may help advance DD assessment and the ability to track response to treatment of new targets.

2024-10-01·Journal of Oral Rehabilitation

The test of masticating and swallowing solids (ToMaSS): An investigation of applicability and clinical utility in children with orofacial myofunctional disorders

Article

作者: Sargolzaei, Kian ; Goetze, Danae ; Lorenz, Marlene ; Frank, Ulrike

AbstractBackgroundOrofacial myofunctional disorders (OMD) are often associated with limitations of oral ingestion of solid food. The Test of Masticating and Swallowing Solids (ToMaSS) is a simple diagnostic tool to assess and quantify oropharyngeal efficiency while eating a standardised cracker.ObjectivesThe objective of this study was to investigate the applicability and clinical utility of the ToMaSS in children with OMD.MethodsIn this case–control study, data were collected from 18 children between 4 and 11 years with confirmed OMD. Inter‐rater reliability and age effects on the ToMaSS parameters were investigated and the specific performance profile of the OMD children was identified.ResultsInter‐rater reliability was excellent for the ToMaSS parameters ‘bites’ (ICC = .999), ‘masticatory cycles’ (ICC = .961), ‘time’(ICC≧ .999) and good for ‘number of swallows’ (ICC = .810). ‘Masticatory cycles’ and ‘time’ decreased as a function of age with a significant difference in the ‘number of masticatory cycles’ between the youngest (4–6 years) and oldest (10–14 years) participants (p = .006, Z = −2.739). Deviations from normative data in at least one of the four ToMaSS parameters were found in 90% of the OMD children with ‘bites’, and ‘masticatory cycles’ predominantly corresponding to the performances expected in typically‐developing children in younger age groups.ConclusionsThe ToMaSS is a reliable diagnostic instrument and clinically useful to detect limited efficiency of oral solid bolus intake and specific impairments in chewing function and duration of food intake in children with OMD. Our data suggest that OMD is associated with delayed development of efficient solid bolus preparation.