[Diagnosis and treatment of perioperative anaemia in elective primary hip and knee arthroplasty : Consensus statement of the "Committee for Perioperative Management" of the Working Group for Endoprosthetics].

Background: Hip and knee arthroplasty remain risk procedures for bleeding complications. The prevalence of preoperative anaemia prior to elective joint replacement is high. There are no standardized guidelines in Germany for the diagnosis and treatment of perioperative anaemia in elective hip and knee arthroplasty.

Natural history of valve disease in patients with mucopolysaccharidosis II and the impact of enzyme replacement therapy.

Mucopolysaccharidosis II (MPS II, Hunter syndrome) is a rare, X-linked lysosomal storage disease caused by reduced activity of iduronate-2-sulfatase (I2S), with subsequent cellular accumulation of the glycosaminoglycans (GAGs), heparan sulfate, and dermatan sulfate (DS). DS is a major component of the extracellular matrix of heart valves, which can be affected in MPS II. We investigated the natural history of valve disease in MPS II and the impact of long-term intravenous enzyme replacement therapy (ERT) with recombinant I2S (idursulfase).

Role of human Kallistatin in glucose and energy homeostasis in mice.

Objective: Kallistatin (KST), also known as SERPIN A4, is a circulating, broadly acting human plasma protein with pleiotropic properties. Clinical studies in humans revealed reduced KST levels in obesity. The exact role of KST in glucose and energy homeostasis in the setting of insulin resistance and type 2 diabetes is currently unknown.

Scale of Parental Playfulness Attitude (PaPA): Psychometric Properties With Latino Caregivers in the United States.

Importance: Parent-child play is a beneficial and meaningful co-occupation. Therapists who want to optimize parent-child play for Latino- and Latina-American dyads need valid, reliable measures to assess caregiver playfulness in addition to preexisting measures of child playfulness.

Objective: To evaluate data collected from Latino-American caregivers with the Scale of Parental Playfulness Attitude (PaPA), a 28-item parent self-report to determine its construct validity, internal reliability, and cross-cultural validity.

A rare case of severely elevated septic parameters caused by intercurrent juvenile rheumatoid arthritis despite dual trauma surgery.

Procalcitonin (PCT) and C-reactive protein (CRP) are considered markers used in clinical practice to differentiate bacterial infections from autoimmune origin. Here we evaluate a rare case of a male patient diagnosed with juvenile idiopathic arthritis. The patient presented repeatedly to our department with atraumatic femoral head necrosis, traumatic medial femoral neck fracture and peri-implant femoral fracture.

Evidence that High-Affinity IgE Can Develop in the Germinal Center in the Absence of an IgG1-Switched Intermediate.

High-affinity allergen-specific IgE is essential for the severe allergic anaphylaxis response. High-affinity Abs are formed by successive rounds of selection of Ag-specific B cells in the germinal center (GC); however, several studies have shown that IgE+ GC B cells are impaired in their ability to undergo selection in the GC. A pathway, known as the "indirect switching pathway" for IgE, has been described whereby Ag-specific B cells initially switch to the IgG1 isotype and undergo affinity selection in the GC, with a secondary switch to the IgE isotype after affinity selection.

The patient journey of patients with Fabry disease, Gaucher disease and Mucopolysaccharidosis type II: A German-wide telephone survey.

Background: Lysosomal Storage Diseases (LSD) are rare and multisytemic diseases which are caused by lysosomal enzyme deficiencies leading into accumulation of waste products due to an interruption in the decomposition process. Due to the low prevalence and therefore limited disease awareness as well as the fact that LSD patients present with unspecific symptoms the final diagnosis is often made after a long delay. The aim of this German-wide survey was to characterize the period between onset of symptoms and final diagnosis regarding e.

Retrospective Analysis of Whole-Body Magnetic Resonance Imaging of Bone Manifestations in Long-Term Treated Patients with Gaucher Disease Type 1.

Purpose: We retrospectively assessed bone and visceral manifestations in patients with Gaucher disease type 1 (GD1) with whole-body magnetic resonance imaging (WB-MRI) to determine the effects of different timing in initiating long-term enzyme replacement therapy.

Materials And Methods: In 17 patients with GD1, we performed 2 WB-MRI examinations at a median interval of 13 months. Patients had received enzyme replacement therapy with alglucerase/imiglucerase for a median of 13 years prior to the first examination.

Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings.

Objectives: To evaluate the function of the oculomotor and vestibular systems and to correlate these findings with the clinical status of patients with Gaucher disease type 3 (GD3). The goal of this cross-sectional and longitudinal study was to find oculomotor biomarkers for future clinical trials.

Methods: Twenty-six patients with GD3 were assessed for eligibility and 21 were able to perform at least one task.

[Assessment of the significance and the requirements of medical postdoctoral lecture qualifications in Germany by the assessment committees].

Objective: The postdoctoral medical lecture qualification (Habilitation) represents the highest academic qualification in Germany, which is successfully completed by approximately 850 candidates in medicine and health sciences per year. However, there is only a limited number of respective academic positions available. In addition, structures in education and society have changed over the last years, challenging the importance of this specific German qualification.

Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome).

Background: Mucopolysaccharidosis (MPS) IVA is a rare lysosomal storage disorder with multiple skeletal and non-skeletal abnormalities requiring multiple surgical interventions. It is well known that patients with MPS IVA suffer from tachycardia, but cardiac and hemodynamic alterations have not been reported to date. We investigated the cardiovascular and hemodynamic alterations in patients with MPS IVA and developed a possible patho-mechanism for cardiovascular deterioration during anesthesia.

Vestibular function in patients with Niemann-Pick type C disease.

We investigated whether vestibular dysfunction may cause or contribute to postural imbalance and falls in patients with Niemann-Pick type C disease (NP-C). Eight patients with NP-C disease and 20 healthy controls were examined using the video-based head impulse test (vHIT) and caloric irrigation to investigate horizontal canal function as well as ocular- and cervical vestibular evoked myogenic potentials (o- and cVEMP), and binocular subjective visual vertical estimation (SVV) for otolith function, and static posturography. There were no significant differences in vestibulo-ocular gain, caloric excitability, o-/cVEMP measures or SVV between the two groups.

Acetyl-dl-leucine in Niemann-Pick type C: A case series.

Objective: To assess the effects of the modified amino acid acetyl-dl-leucine (AL) on cerebellar ataxia, eye movements, and quality of life of patients with Niemann-Pick type C (NP-C) disease.

Methods: Twelve patients with NP-C disease were treated with AL 3 g/d for 1 week and then with 5 g/d for 3 weeks with a subsequent washout period of 1 month. The Scale for the Assessment and Rating of Ataxia (SARA), the Spinocerebellar Ataxia Functional Index (SCAFI), the modified Disability Rating Scale (mDRS), EuroQol 5Q-5D-5L, and the visual analog scale (VAS) were administered.

Evaluation of Bone Marrow Infiltration in Non-Neuropathic Gaucher Disease Patients with Use of Whole-Body MRI--A Retrospective Data Analysis.

Purpose: To evaluate whole-body magnetic resonance imaging (WB-MRI) for the assessment of bone marrow infiltration in patients with confirmed Gaucher disease type 1 under long-term enzyme replacement therapy (ERT).

Materials And Methods: This retrospective data analysis included 38 patients in two subgroups. Group A: 10 females, 9 males, 15-29 years, mean age 22 years and Group B: 11 females, 8 males, 29-77 years, mean age 49 years, all treated with alglucerase or imiglucerase for at least 12.

Reliability and validity of the German translation of the de Morton Mobility Index (DEMMI) performed by physiotherapists in patients admitted to a sub-acute inpatient geriatric rehabilitation hospital.

Background: Mobility is a key outcome in geriatric rehabilitation. The de Morton Mobility Index (DEMMI) is an internationally well-established, unidimensional measure of mobility with good psychometric properties. The aim of this study was to examine the reliability and construct validity of the German translation of the DEMMI in geriatric inpatients.

[German version of the de Morton mobility index. First clinical results from the process of the cross-cultural adaptation].

Background: The English version of the de Morton Mobility Index (DEMMI) enables allied health professions in an inpatient setting to assess the mobility of geriatric patients in a reliable, valid, easy and fast way, without showing any floor or ceiling effects. The aim of this study was the DEMMI's cross-cultural adaption into German language with further analysis of some of its psychometric properties based on this process.

Material And Methods: Translation was done in a multistage procedure following international recommendations.

Families of individuals with intellectual and developmental disabilities: policy, funding, services, and experiences.

Families are critical in the provision of lifelong support to individuals with intellectual and developmental disabilities (IDD). Today, more people with IDD receive long-term services and supports while living with their families. Thus, it is important that researchers, practitioners, and policy makers understand how to best support families who provide at-home support to children and adults with IDD.

Natriuretic peptides enhance the oxidative capacity of human skeletal muscle.

Cardiac natriuretic peptides (NP) are major activators of human fat cell lipolysis and have recently been shown to control brown fat thermogenesis. Here, we investigated the physiological role of NP on the oxidative metabolism of human skeletal muscle. NP receptor type A (NPRA) gene expression was positively correlated to mRNA levels of PPARγ coactivator-1α (PGC1A) and several oxidative phosphorylation (OXPHOS) genes in human skeletal muscle.

Wound repair and regeneration.

The skin is the biggest organ of the human being and has many functions. Therefore, the healing of a skin wound displays an extraordinary mechanism of cascading cellular functions which is unique in nature. As healing and regeneration processes take place in all parts of the human body, this review focuses on the healing processes of the skin and highlights the classical wound healing phases.

Host susceptibility to gram-negative pneumonia after lung contusion.

Background: Lung contusion (LC) induces inflammation with high local concentrations of proinflammatory mediators stimulating chemotaxis and activation of neutrophils. LC is also a risk factor for development of pneumonia; however, the reason for this increased susceptibility is not clearly identified. We hypothesize that LC creates acute changes in the host pulmonary innate immune system that leads to vulnerability from a "second" hit bacterial infection.

Confocal laser-scanning microscopy allows differentiation between Fabry disease and amiodarone-induced keratopathy.

Background: The aim of this work is to compare the microstructure of cornea verticillata in Fabry disease with amiodarone-induced keratopathy by means of in vivo confocal laser-scanning microscopy (CLSM).

Methods: Ten eyes of ten patients suffering from Fabry disease, six eyes of six patients with amiodarone-induced keratopathy and eight eyes of healthy control subjects were examined by conventional slit-lamp microscopy and CLSM. One Fabry patient received amiodarone therapy.

Four-year follow-up of chronic neuronopathic Gaucher disease in Europeans using a modified severity scoring tool.

In 2007, the European Task Force for neuronopathic Gaucher disease (NGD) published a review of 55 patients across four countries. Although some observations were possible, analysis was difficult due to the absence of a systematic way of assessing patients. In response to this, a Severity Scoring Tool (SST) was devised to offer a systematic means of assessing the neurological presentation seen.

Determination of globotriaosylceramide in plasma and urine by mass spectrometry.

Background: Fabry disease is an X-chromosomally inherited lysosomal storage disorder leading to accumulation of glycosphingolipids, mainly globotriaosylceramide (ceramide-trihexoside, Gb3). Concentrations of Gb3 in plasma and urine have been used to diagnose Fabry disease and to monitor enzyme replacement therapy with recombinant alpha-galactosidase.

Methods: Gb3 was purified from plasma or urine by combined liquid extraction/protein precipitation and solid-phase extraction, and was detected by flow-injection analysis electrospray mass spectrometry (MS) using multi-reaction-monitoring.