Characterization of peripapillary hyperreflective ovoid mass-like structures (PHOMS) in a broad spectrum of neurological disorders.

Objective: Peripapillary hyperreflective ovoid mass-like structures (PHOMS) have been identified in ophthalmological and neurological diseases. Since PHOMS were found more frequently in these cohorts compared to healthy controls, it is assumed that the presence of PHOMS reflects a secondary disease marker of unknown significance. The extent to which disease-specific differences are reflected in PHOMS has not yet been sufficiently investigated.

The German CaRe high registry for familial hypercholesterolemia - Sex differences, treatment strategies, and target value attainment.

Background And Aims: Familial hypercholesterolemia (FH) is among the most common genetic disorders in primary care. However, only 15% or less of patients are diagnosed, and few achieve the goals for low-density lipoprotein cholesterol (LDL-C). In this analysis of the German Cascade Screening and Registry for High Cholesterol (CaRe High), we examined the status of lipid management, treatment strategies, and LDL-C goal attainment according to the ESC/EAS dyslipidemia guidelines.

Lipid Profile and Lipoprotein(a) Testing.

Background: The treatment of dyslipidemias plays a major role in the primary and secondary prevention of cardiovascular disease. Proper evaluation of the patient's lipid status is very important for risk assessment and as a guide to treatment.

Methods: This review is based on publications retrieved by a selective search of the literature, including current guidelines.

[Update lipidology : Evidence-based treatment of dyslipidemia].

The treatment of elevated plasma lipid levels plays an important role in prevention of atherosclerosis. Lowering of low-density lipoprotein (LDL) cholesterol with statins and if required with additional ezetimibe, bempedoic acid and proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors is of utmost importance. While lifestyle modification can strongly influence the cardiovascular risk, it only plays a minor role in lowering LDL cholesterol values.

Effects of age on non-communicable disease risk factors among Nepalese adults.

The growing burden of non-communicable diseases (NCDs) and an increase in the prevalence of the underlying risk factors are creating a challenge to health systems in low- and middle-income countries (LMICs). In Nepal, deaths attributable to NCDs have been increasing, as has life expectancy. This poses questions with regards to how age and various risk factors interact in affecting NCDs.

2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance.

This 2023 statement updates clinical guidance for homozygous familial hypercholesterolaemia (HoFH), explains the genetic complexity, and provides pragmatic recommendations to address inequities in HoFH care worldwide. Key strengths include updated criteria for the clinical diagnosis of HoFH and the recommendation to prioritize phenotypic features over genotype. Thus, a low-density lipoprotein cholesterol (LDL-C) >10 mmol/L (>400 mg/dL) is suggestive of HoFH and warrants further evaluation.

Two years of pegvaliase in Germany: Experiences and best practice recommendations.

Background: In 2019, pegvaliase was approved in Europe for the treatment of phenylketonuria (PKU) in patients aged 16 years and older with blood phenylalanine (Phe) concentrations above 600 μmol/L despite prior management with available treatment options. Since its European approval, German metabolic centres have gained valuable experience, which may be of benefit to other treatment centres managing patients on pegvaliase.

Methods: After a virtual meeting that was attended by nine German physicians, three German dietitians and one American physician, a follow-up discussion was held via an online platform to develop a set of recommendations on the use of pegvaliase in Germany.

Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia.

It remains unresolved whether central nervous system involvement in treated classical galactosemia (CG) is a progressive neurodegenerative process. This study aimed to investigate retinal neuroaxonal degeneration in CG as a surrogate of brain pathology. Global peripapillary retinal nerve fibre layer (GpRNFL) and combined ganglion cell and inner plexiform layer (GCIPL) were analysed in 11 CG patients and 60 controls (HC) using spectral-domain optical coherence tomography.

Phytosterols and Cardiovascular Risk Evaluated against the Background of Phytosterolemia Cases-A German Expert Panel Statement.

Phytosterols (PSs) have been proposed as dietary means to lower plasma LDL-C. However, concerns are raised that PSs may exert atherogenic effects, which would offset this benefit. Phytosterolemia was thought to mimic increased plasma PSs observed after the consumption of PS-enriched foods.