The Prevention of Maternal Phenylketonuria (PKU) Syndrome: The Development and Evaluation of a Specific Training Program.

Background: Maternal phenylketonuria (PKU) syndrome, leading to severe psychomotor retardation, microcephaly, cardiac defects and undergrowth, affects the unborn children of mothers with PKU with insufficient metabolic control during pregnancy. To improve long-term outcomes, a specific prevention program was developed.

Methods: We designed a group training program for young women with PKU (>14 years) and their partners.

Predictors for severe persisting pain in rheumatoid arthritis are associated with pain origin and appraisal of pain.

Objectives: To determine the proportion of patients with rheumatoid arthritis (RA) with severe persisting pain and to identify predictive factors despite treatment-controlled disease activity.

Methods: This prospective multicentre study included outpatients with RA scheduled for escalation of anti-inflammatory treatment due to active disease and severe pain (Disease Activity Score 28 (DAS28)>3.2 and Visual Analogue Scale (VAS)>50).

[Fibromyalgia as a Rheumatic Pain Syndrome].

Epidemiology and pathophysiology: Fibromyalgia is significantly more common in people with rheumatic diseases than in the general population. Nevertheless, it can occur independent of other diseases. Physical and psychosocial factors are responsible for the genesis for fibromyalgia making it a multifactorial disease.

[Number of teeth as indicator for individual risk for delirium].

Background: Recent research claims some interdependence between oral health and dementia; however, no empirical data could be found regarding the role of oral hygiene in delirium. This study investigated potential risk indicators related to oral hygiene in relation to development of delirium in the care of older patients.

Methods: A dental examination was performed in 120 patients in the context of a case-control study.

Association between the Ile164 β2 Adrenergic Receptor Polymorphism and Fatigue in Patients with Rheumatoid Arthritis.

Introduction: In the present work, the frequency of inherited polymorphisms of the beta 2 adrenergic receptor (β2AR) gene and their association with fatigue in patients with rheumatoid arthritis (RA) was examined.

Methods: An allele-specific polymerase chain reaction was used to determine the common variants of the β2AR at position 16, 27, and 164 in 92 German RA outpatients. Health Assessment Questionnaire (HAQ-DI), Beck Depression Inventory (BDI), Perceived Stress Questionnaire (PSQ-30), Multidimensional Fatigue Inventory (MFI-20) were utilized.

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.

Management, vaccination status and COVID-19 morbidity of patients with Gaucher disease in Germany during the COVID-19 pandemic.

Background: Continuation of standard management of Gaucher disease (GD) has been challenging during the COVID-19 pandemic, resulting in infrequent/missed infusions and follow-up appointments. Little data are available on the consequences of these changes and on the SARS-CoV-2 vaccinations in German GD patients.

Methods: A survey with 22 questions about GD management during the pandemic was sent to 19 German Gaucher centres.

Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.

To prevent maternal phenylketonuria (PKU) syndrome low phenylalanine concentrations (target range, 120-360 μmol/L) during pregnancy are recommended for women with PKU. We evaluated the feasibility and effectiveness of current recommendations and identified factors influencing maternal metabolic control and children's outcome. Retrospective study of first successfully completed pregnancies of 85 women with PKU from 12 German centers using historical data and interviews with the women.

IL-10 Induced by mTNF Crosslinking-Mediated Reverse Signaling in a Whole Blood Assay Is Predictive of Response to TNFi Therapy in Rheumatoid Arthritis.

(1) Background: To date, the response of patients with rheumatoid arthritis (RA) to the various biologic DMARD available cannot be predicted due to a lack of reliable biomarkers. Based on our preliminary work on tmTNF reverse signaling, we developed a whole-blood assay measuring tmTNF crosslinking-induced IL-10 production to predict the response to TNF inhibitor (TNFi) therapy. (2) Methods: This prospective study included patients with active RA.

[Trial of the GeriNOT screening tool : Identification of geriatric risk potentials on admission to hospital care from the age of 70 years].

Background: Geriatric-specific characteristics influence patient-relevant outcomes of inpatient hospital care in patients aged 70 years and older: prolonged length of stay, complications, increase in utilization of required services as well as mortality rates.

Objective: The screening tool GeriNOT, identification of geriatric risk potential with 7 items, of which mobility and cognition are double-weighted, score 9 points, was tested for its predictive content and diagnostic quality.

Material And Methods: Diagnostic study from a retrospective, bicentric complete survey in all types of admission from 70 years with 2541 patient cases.

[Osteoarthritis: what's new?].

Osteoarthritis (OA) is a very common disease. As a consequence of the ageing society, osteoarthritis prevalence will further increase. Age itself, trauma, unequal load distribution and overweight are risk factors.

COVID-19 Vaccination Coverage in Patients with Rheumatic Diseases in a German Outpatient Clinic: An Observational Study.

Background: In the second year of the COVID-19 pandemic, highly effective and safe vaccines became available. Since patients with rheumatic diseases show increased susceptibility to infections and typical medications raise the risk of severe COVID-19, high vaccination coverage is of significant importance to these patients.

Methods: Consecutive patients with different rheumatic diseases were asked for their vaccination status regarding COVID-19, influenza and Streptococcus pneumoniae during their routine consultations.

Humoral and cellular response to COVID-19 vaccination in patients with autoimmune inflammatory rheumatic diseases under real-life conditions.

Objectives: Successful vaccination is key to overcoming the COVID-19 pandemic. Immunosuppressive medication is known to potentially compromise vaccination responses, and expansion of our knowledge on vaccination efficacy in patients with autoimmune inflammatory rheumatic diseases (AIIRD) is therefore of utmost importance.

Methods: We conducted a single-centre observational study and evaluated the efficacy of approved COVID-19 vaccines in 303 adult AIIRD patients.

A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials.

Introduction: Current clinical outcome assessments (COAs) are not effectively capturing the complex array of symptoms of adults with phenylketonuria (PKU). This study aimed to identify concepts of interest relevant to adults with PKU. Based on these concepts, COAs for patient-reported outcomes (PROs), observer-reported outcomes (ObsROs), and clinician-reported outcomes (ClinROs) were selected or developed and content validity was assessed.

Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy.

Background: Insufficient metabolic control during pregnancy of mothers with phenylketonuria (PKU) leads to maternal PKU syndrome, a severe embryo-/fetopathy. Since maintaining or reintroducing the strict phenylalanine (Phe) limited diet in adults with PKU is challenging, we evaluated the most important dietary and psychosocial factors to gain and sustain good metabolic control in phenylketonuric women throughout pregnancy by a questionnaire survey with 38 questions concerning therapy feasibility. Among them, the key questions covered 5 essential items of PKU care as follows: General information about maternal PKU, PKU training, diet implementation, individual metabolic care, personal support.

Evaluating the effectiveness of a structured, simulator-assisted, peer-led training on cardiovascular physical examination in third-year medical students: a prospective, randomized, controlled trial.

Previous research suggests that cardiac examination skills in undergraduate medical students frequently need improvement. There are different ways to enhance physical examination (PE) skills such as simulator-based training or peer-assisted learning (PAL). The aim of this study was to evaluate the effectiveness of a structured, simulator-assisted, peer-led training on cardiovascular PE.

Humoral Immunity to Varicella Zoster Virus in Patients with Systemic Lupus Erythematosus and Rheumatoid Arthritis Compared to Healthy Controls.

Background: The prevalence of herpes zoster (HZ) is high in patients with rheumatic diseases. Systemic lupus erythematosus (SLE) doubles the risk for developing HZ. However, little is known about natural humoral immunity against varicella zoster virus (VZV) in patients with SLE.