Teaching case 1-2020 - ADDENDUM: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to a novel CSF1R mutation - An unusual cause of dementia.

Not available.

Concomitant DNA methylation and transcriptome signatures define epidermal responses to acute solar UV radiation.

The simultaneous analysis of different regulatory levels of biological phenomena by means of multi-omics data integration has proven an invaluable tool in modern precision medicine, yet many processes ultimately paving the way towards disease manifestation remain elusive and have not been studied in this regard. Here we investigated the early molecular events following repetitive UV irradiation of in vivo healthy human skin in depth on transcriptomic and epigenetic level. Our results provide first hints towards an immediate acquisition of epigenetic memories related to aging and cancer and demonstrate significantly correlated epigenetic and transcriptomic responses to irradiation stress.

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia - An unusual cause of dementia.

No abstract available.

Can pulmonary sarcoidosis trigger a progressive multifocal leukoencephalopathy? Considerations from a case series and a review of literature.

Progressive multifocal leukoencephalopathy (PML) is a severe infectious brain disease with lethal outcome mainly seen in immunocompromised subjects. Herein, we describe a new form of PML with different outcome which was observed in patients suffering from systemic sarcoidosis. Thus, we raise the question whether preexisting sarcoidosis might predispose for or even trigger PML.

Multicenter methodology comparison of the FDA and ISO standard for measurement of in vitro UVA protection of sunscreen products.

In vitro standard methods are available and accepted worldwide to assess UVA protection of sunscreen products. Though, harmonisation of methods has made progress in the last decade, still two differing methods - one by FDA the other by ISO - are in use. In a multicentre study including 9 centres in Germany, 4 different commercial sunscreen products were assessed using both methods to discover their similarities and differences.

Urinary Tract Infections in Infants and Children.

Urinary tract infections (UTI) are one of the most common infections in children and symptoms may be nonspecific. The risk of renal scarring is highest in children under 1 year of age with febrile UTI and high-grade vesicoureteral reflux (VUR). Although treatment of UTI is usually straightforward, given increased rates of antimicrobial resistance worldwide, the choice of treatment for pediatric UTI should be guided by community resistance patterns whenever feasible.

The 'Dispersal Rate' - a product dependent characteristic to predict the reliability of the calibrated in vitro SPF on WW5 plates.

Objectives: The evaluation of the SPF by the measurement of light transmission through a thin film on PMMA plates is an interesting alternative to the conventional in vivo method. However, during the last years an internationally acknowledged in vitro SPF measurement could not be established mainly due to bad reproducibility. With this work, we would like to give new suggestions for an improved reproducibility and to open new space for discussion.

Neuromyelitis optica in Austria in 2011: to bridge the gap between neuroepidemiological research and practice in a study population of 8.4 million people.

Background: In 2008 the Austrian Task Force for Neuromyelitis Optica (NMO) started a nation-wide network for information exchange and multi-centre collaboration. Their aim was to detect all patients with NMO or NMO spectrum disorders (NMO-SD) in Austria and to analyse their disease courses and response to treatment.

Methods: (1) As of March 2008, 1957 serum samples (of 1557 patients) have been tested with an established cell based immunofluorescence aquaporin-4 antibody (AQP4-ab) assay with a high sensitivity and specificity (both >95%).

B cell infiltration and lymphonodular hyperplasia in bladder submucosa of patients with persistent bacteriuria and recurrent urinary tract infections.

Purpose: We defined chronic inflammatory cell types in bladder submucosa and the presence of umbrella cells on the surface of bladder epithelium in patients 5 to 21 years old with persistent bacteriuria due to neurogenic bladder and recurrent urinary tract infections associated with vesicoureteral reflux.

Materials And Methods: Bladder mucosa biopsies from 12 patients and 6 controls were fixed in Carnoy's solution and examined for T cells (CD3, CD4, CD8), B cells (CD79) and plasma cells (CD138). The number of cells in a defined area of submucosa was determined by counting all nuclei in the area.

Combination of two pharmacophoric systems: synthesis and pharmacological evaluation of spirocyclic pyranopyrazoles with high σ₁ receptor affinity.

The novel class of spirocyclic σ(1) ligands 3 (6',7'-dihydro-1'H-spiro[piperidine-4,4'-pyrano[4,3-c]pyrazoles]) was designed by the combination of the potent σ(1) ligands 1 and 2 in one molecule. Thorough structure affinity relationships were derived by the variation of the substituents in position 1', 1, and 6'. Whereas the small electron rich methylpyrazole heterocycle was less tolerated by the σ(1) receptor protein, the introduction of a phenyl substituent instead of the methyl group led to ligands with a high σ(1) affinity.

Absence of bacterial reservoirs in the bladder epithelium of patients with chronic bacteriuria due to neurogenic bladder.

Purpose: Bacteriuria is common in patients with neurogenic bladder who are on clean intermittent catheterization for bladder emptying. In a longitudinal study patients carried 1 or 2 clones of Escherichia coli in the urine during months of surveillance. An explanation for persistent bacteriuria in this population could be that periurethral E.

Escherichia coli colonizing the neurogenic bladder are similar to widespread clones causing disease in patients with normal bladder function.

Study Design: Clonal typing of neurogenic clones.

Objective: To determine whether neurogenic clones carried over weeks in the urine of asymptomatic children with neurogenic bladder were similar to known uropathogenic clones associated with disease.

Setting: Michigan State University; VA Medical Center, Minneapolis, MN, USA.

Synthesis and structure-affinity relationships of novel spirocyclic sigma receptor ligands with furopyrazole structure.

The synthesis of novel spirocyclic sigma receptor ligands with high affinity is described. The cyclization of the hydroxy acetal 8, which represents a key step in the synthesis of the spirocyclic compounds 3, was supported by theoretical considerations. The affinity of the spirocyclic furopyrazoles 3a-c to the sigma receptors was determined in receptor binding studies with radioligands.

[Computer assisted radiological diagnostics of arthritic joint alterations].

Computer assisted diagnosis (CAD) schemes are currently used in the field of musculoskeletal diseases to quantitatively assess vertebral fractures, joint space narrowing, andr erosion. Most systems work semi-automatically, i.e.

[Quantitative imaging in rheumatoid arthritis: from scoring to measurement].

The need of clinical sciences to measure therapy effects on chronic illness led to development, evaluation, and publication of several radiological methods to monitor disease progression of rheumatic diseases. This review article explains the basics and background of scoring and measurement. The radiologist thus learns to report more compactly and to communicate the results more specifically.

Effect of a phosphate supplement on urine pH in patients with neurogenic bladder receiving intermittent catheterization.

Study Design: Pilot study; prospective design.

Setting: University Hospital, Virginia, USA.

Objective: To examine a phosphorus supplement as a urine-acidifying agent in patients with neurogenic bladder on clean intermittent catheterization.

Sensitivity of a rapid antigen detection test for group A streptococci in a private pediatric office setting: answering the Red Book's request for validation.

In the office laboratory of our private practice, the sensitivity of a single rapid antigen detection (RAD) test for group A streptococci (compared with backup throat culture) was examined over 3 winter periods. When cultures were held only 24 hours, the sensitivity was 92%; in the second period, when cultures were held to 48 hours, the sensitivity declined significantly to 86%; when the cultures were read without knowledge of the RAD test result, the sensitivity was 85%. As the Red Book Committee has suggested, physician office laboratories should validate the sensitivity of their RAD test against culture onto blood agar before abandoning the backup throat culture.

Bladder epithelium is abnormal in patients with neurogenic bladder due to myelomeningocele.

Objective: To describe the urothelium of the neurogenic bladder in patients with myelomeningocele on clean intermittent catheterization.

Setting: Outpatient practice.

Methods: Samples of bladder wall obtained from two groups of patients were examined for urothelium.

Variation in frequency of the virulence-factor gene in Escherichia coli clones colonizing the stools and urinary tracts of healthy prepubertal girls.

To provide information on virulence expression of Escherichia coli in healthy hosts, stool, periurethral, and urine samples were collected weekly from healthy 3-6-year-old girls who lived in a small rural community. Dominant and nondominant clones were defined in stool specimens, and the expression of virulence factors was determined. We found that healthy girls commonly shared dominant clones.

Urinary tract infections in infants and children.

This article discusses urinary tract infections in infants and children. The following areas are explored: epidemiology, clinical manifestations, diagnosis, management, imaging, outcome, and prevention.

Clonal diversity of Escherichia coli colonizing stools and urinary tracts of young girls.

Intestinal carriage of Escherichia coli in prepubertal girls without a history of urinary tract infection was examined by collecting weekly stools and periurethral and urine samples over 3 to 4 weeks of study. Dominant and minor clones were defined by grouping 28 E. coli isolates into clonal types.

Should we abandon standard microscopy when screening for urinary tract infections in young children?

Dipstick analysis is a screening test for urinary tract infection (UTI) in office practice. Standard urine microscopy is available offsite. We evaluated the usefulness of these tests on consecutive urine samples obtained by bladder catheterization in young children with a possible UTI.

Effect of a single-use sterile catheter for each void on the frequency of bacteriuria in children with neurogenic bladder on intermittent catheterization for bladder emptying.

Objective: The frequency of bacteriuria is high in children with neurogenic bladder on intermittent catheterization for bladder emptying. In an effort to decrease bacteriuria, we examined whether the method of catheter care was responsible for the high rate of bacteriuria. For this, the frequency of bacteriuria was examined in the same patient on single-use sterile catheters and on reused clean catheters.

Assessing abdominal fatness with local bioimpedance analysis: basics and experimental findings.

Objective: Abdominal fat is of major importance in terms of body fat distribution but is poorly reflected in conventional body impedance measurements. We developed a new technique for assessing the abdominal subcutaneous fat layer thickness (SFL) with single-frequency determination of the electrical impedance across the waist (SAI).

Subjects And Measurements: The method uses a tetrapolar arrangement of surface electrodes which are placed symmetrically to the umbilicus in a plane perpendicular to the body axis.