69 research outputs found
PKU6: INTERNATIONAL PSYCHOMETRIC VALIDATION AND CROSS-CULTURAL EQUIVALENCE OF A URINARY INCONTINENCE SPECIFIC QOL SCALE (CONTILIFE®) IN SIX EUROPEAN COUNTRIES
Cone-rod dystrophy can be a manifestation of Danon disease
Background Danon disease is a neuromuscular disorder with variable expression in the eye. We describe a family with Danon disease and cone-rod dystrophy (CRD). Methods Affected males of one family with Danon were invited for an extensive ophthalmologic examination, including color vision testing, fundus photography, Goldmann perimetry, full-field electroretinogram (ERG), and SD-OCT. Previous ophthalmologic data were retrieved from medical charts. The LAMP2 and RPGR gene were analyzed by direct sequencing. Results Two siblings had no ocular phenotype. The third sibling and a cousin developed CRD leading to legal blindness. Visual acuity deteriorated progressively over time, color vision was severely disturbed, and ERG showed reduced photopic and scotopic responses. SD-OCT revealed thinning of the photoreceptor and RPE layer. Visual fieldsdemonstrated central scotoma. The causal mutation was p. Gly384Arg in LAMP2; no mutations were found in RPGR. Conclusions This is the first description of CRD in Danon disease. The retinal phenotype was a late onset but severe dystrophy characterized by loss of photoreceptors and RPE cells. With this report, we highlight the importance of a comprehensive ophthalmologic examination in the clinical work-up of Danon disease
Summary version of the Standards, Options and Recommendations for the management of adult patients with intracranial glioma (2002)
Summary of the Standards, Options and Recommendations for the management of patients with carcinoma of unknown primary site (2002)
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Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group
Supplementary material is available online at https://www.sciencedirect.com/science/article/pii/S0960896621006878#sec0054 .Highlights:
• Management of physical activity intolerance in GSD V and GSD VII is nuanced and impacts activities of daily living (ADL).
• Guidelines support clinicians in multiple disciplines across the continuum of care and lifespan of patients.
• Overview of management, including guidance on physical activity, nutrition, pain, medical emergencies, and rehabilitation.
• Considerations for general medical care, including established and emerging concomitant conditions, potential drug-disease interactions, surgery, and obstetrics.
• Emerging issues and knowledge gaps are highlighted.Reneo Pharmaceuticals Inc.; International Association for Muscle Glycogen Storage Disease
Normoglycemic ketonemia as biochemical presentation in ketotic glycogen storage disease
Background: According to the textbooks, the ketotic glycogen storage disease (GSD) types 0, III, VI, IX, and XI are associated with fasting ketotic hypoglycemia and considered milder as gluconeogenesis is intact. Methods: A retrospective cohort study of biochemical profiles from supervised clinical fasting studies is performed in ketotic GSD patients in our metabolic center. For data analysis, hypoglycemia was defined as plasma glucose concentration <2.6 mmol/L. Total KB was defined as the sum of blood acetoacetate and β-hydroxybutyrate concentrations. If the product of glucose and KB concentrations was greater than 10, a ketolysis defect was suspected. Results: Data could be collected from 13 fasting studies in 12 patients with GSD III (n = 4), GSD VI (n = 3), and GSD IX (n = 5). Six patients remained normoglycemic with median glucose concentration of 3.9 mmol/L (range, 2.8–4.6 mmol/L) and median total KB concentration of 1.9 mmol/L (range, 0.6–5.1 mmol/L). The normoglycemic patients included type VI (3 out of 3) and type IX (3 out of 5) patients. All type III patients developed ketotic hypoglycemia. Interestingly, in five patients (one GSD III, one GSD VI, and three GSD IX), the biochemical profile suggested a ketolysis defect. Conclusion: Normoglycemic ketonemia is a common biochemical presentation in patients with GSD types VI and IX, and ketonemia can precede hypoglycemia in all studied GSD types. Therefore, GSD VI and GSD IX should be added to the differential diagnosis of ketotic normoglycemia, and KB concentrations should be routinely measured in ketotic GSD patients
Hearing in adults with Pompe disease
Hearing loss has been recognized as an important cause of morbidity in infants with Pompe disease, a metabolic disorder caused by deficiency of acid α-glucosidase. It is unknown whether hearing is also affected in adult Pompe patients. We have studied the prevalence, severity, and type of hearing loss in 58 adult patients using tympanometry and pure-tone audiometry. Compared to normative data (International Organisation for Standardisation standard 7029), 72% of patients had impaired hearing thresholds at one or more frequencies in at least one ear. All measured frequencies were equally affected. All patients had a sensorineural type of hearing loss, pointing to cochlear or retrocochlear pathology. Categorised according to the standards of the World Health Organisation 21% of patients had a clinically relevant hearing loss (16% slight, 3% moderate, 2% profound). Though this suggests that hearing loss occurs in a considerable number of patients with Pompe disease, this prevalence is similar to that in the general population. Therefore, we conclude that hearing loss is not a specific feature of Pompe disease in adults
Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients
PKU6: INTERNATIONAL PSYCHOMETRIC VALIDATION AND CROSS-CULTURAL EQUIVALENCE OF A URINARY INCONTINENCE SPECIFIC QOL SCALE (CONTILIFE®) IN SIX EUROPEAN COUNTRIES
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