Objective: The Stroke-Specific Quality of Life Scale (SS-QOL) is a recently developed measure to assess health-related quality of life in stroke patients. The objective of this study was to translate the American version of the SS-QOL and examine the validity of the German proxy version, in both ischemic and hemorrhagic stroke survivors.

Methods: The translation was conducted according to published guidelines. The validation was performed in consecutive adult stroke survivors. Data were obtained 1 year after discharge. To examine the dimensionality of the SS-QOL, factor analyses were conducted. The validity was examined by the associations of the subscales with the Functional Independence Measure and Short Form 36.

Results: The literal translation revealed no major changes between the American and the German versions of the SS-QOL. Three hundred seven stroke survivors were included in the study. Unlike the 1st validation study, most of the variance could be explained by 8 instead of 12 factors; therefore, the 8-factor solution was further examined. The validity of the SS-QOL total score and “observable” scales such as “activities” was shown.

Conclusions. For the German proxy version of the SS-QOL, an 8-factor solution was found to be the most appropriate. The psychometric properties of these 8 subscales were good or excellent with respect to internal consistency. The validity of the total score was shown, but some subscales(energy, mood, and thinking) failed the hypothesized associations. Therefore, the SS-QOL needs to be further explored in other settings and populations.

Background: As international travel increases, there is rising exposure to many pathogens not traditionally encountered in the resource-rich countries of the world. Filarial infections, a great problem throughout the tropics and subtropics, are relatively rare among travelers even to filaria-endemic regions of the world. The GeoSentinel Surveillance Network, a global network of medicine/travel clinics, was established in 1995 to detect morbidity trends among travelers. Principal Findings: We examined data from the GeoSentinel database to determine demographic and travel characteristics associated with filaria acquisition and to understand the differences in clinical presentation between nonendemic visitors and those born in filaria-endemic regions of the world. Filarial infections comprised 0.62% (n = 271) of all medical conditions reported to the GeoSentinel Network from travelers; 37% of patients were diagnosed with Onchocerca volvulus, 25% were infected with Loa loa, and another 25% were diagnosed with Wuchereria bancrofti. Most infections were reported from immigrants and from those immigrants returning to their county of origin ( those visiting friends and relatives); the majority of filarial infections were acquired in sub-Saharan Africa. Among the patients who were natives of filaria-nonendemic regions, 70.6% acquired their filarial infection with exposure greater than 1 month. Moreover, nonendemic visitors to filaria-endemic regions were more likely to present to GeoSentinel sites with clinically symptomatic conditions compared with those who had lifelong exposure. Significance: Codifying the filarial infections presenting to the GeoSentinel Surveillance Network has provided insights into the clinical differences seen among filaria-infected expatriates and those from endemic regions and demonstrated that O. volvulus infection can be acquired with short-term travel.

Our aim was to develop guidance for general paediatricians

and primary care physicians in diagnosing and managing

cow’s milk protein allergy in infants. The guidelines were

developed by discussion based on existing national

recommendations and standards, clinical experience and,

whenever possible, evidence from the literature. Separate

algorithms cover breast-fed and formula-fed infants. The

recommendations emphasise the importance of comprehensive

history taking and careful physical examination. Patients with

severe symptoms need to be referred to a specialist. Elimination

of cow’s milk protein from the infant’s or mother’s diet and

challenges are the gold standard for diagnosis. This guidance is

intended as a basis for local discussion, implementation and

prospective evaluation. The algorithms should be regularly

assessed using clinical audit standards. Once validated, the

diagnostic framework could provide a standardised approach

in epidemiological and therapeutic studies.

Background: Heterozygous gain-of-function mutations in various

genes encoding proteins of the Ras-MAPK signalling

cascade have been identified as the genetic basis of Noonan

syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS).

Mutations of SOS1, the gene encoding a guanine nucleotide

exchange factor for Ras, have been the most recent discoveries

in patients with NS, but this gene has not been studied in

patients with CFCS.

Methods and results: We investigated SOS1 in a large cohort

of patients with disorders of the NS–CFCS spectrum, who had

previously tested negative for mutations in PTPN11, KRAS,

BRAF, MEK1 and MEK2. Missense mutations of SOS1 were

discovered in 28% of patients with NS. In contrast, none of the

patients classified as having CFCS was found to carry a

pathogenic sequence change in this gene.

Conclusion: We have confirmed SOS1 as the second major

gene for NS. Patients carrying mutations in this gene have a

distinctive phenotype with frequent ectodermal anomalies such

as keratosis pilaris and curly hair. However, the clinical picture

associated with SOS1 mutations is different from that of CFCS.

These findings corroborate that, despite being caused by gainof-

function mutations in molecules belonging to the same

pathway, NS and CFCS scarcely overlap genotypically.

Background: The comprehensive ICF Core Set for rheumatoid arthritis (RA) is a selection of 96 categories from the International Classification of Functioning, Disability and Health (ICF), representing relevant aspects in the functioning of RA patients.

Objectives: To study the reliability of the ICF Core Set for RA in rheumatological practice, and to explore the metric of the qualifiers’ scale.

Methods: 25 RA patients from an outpatient department of rheumatology were interviewed using the ICF Core Set for RA (76% females, mean (SD) age 57.5 (12.5) years, disease duration 15.9 (14.6) years). Interviews were performed independently by both a physiotherapist and an occupational therapist on the same day and again after one week by one of them. The severity of the patients’ problems was quantified on a qualifier scale ranging from 0 (no problem) to 4 (complete problem). Analyses of intra-rater and inter-rater agreement, kappa statistics, and Rasch analyses were applied.

Results: Mean intra-rater (inter-rater) complete agreement for all categories was seen in 59% (47%) of observations, ranging from 29% (0%) to 96% (80%) for individual categories. Weighted kappa statistics with

value >0.4 showed reliability in 86% of categories within raters, and in 43% of categories between raters. Improved inter-rater and intra-rater reliability was observed with a reduced number of qualifiers for the categories.

Conclusions: Inter-rater and intra-rater reliability of the ICF Core Set of RA was low to moderate. The metric of the qualifiers’ scale may be improved by reducing the number of qualifiers to three for all components.

Objectives: To establish the regional delay of contrast arrival in magnetic resonance perfusion imaging (MRPI) for the detection of collateral-dependent myocardium in patients with coronary artery disease.

Design and Setting: observational study, case series; single center, university hospital.

Patients: 30 patients with coronary artery disease and collateral-dependent myocardium and 17 healthy volunteers.

Methods: Resting and hyperemic (adenosine) MRPI was used to determine delay time (Δtd) of contrast arrival between the left ventricle and collateral-dependent or antegradely-perfused myocardium, and myocardial perfusion (MP, ml/g/min).

Results: In healthy volunteers Δtd at rest and during hyperemia were 0.8±0.4 and 0.3±0.3 sec., and MP was 1.14±0.21 and 4.23±1.12 ml/min/g. Δtd in antegradely-perfused vs. collateraldependent

myocardium was 0.9±0.7 vs. 1.7±1.0 sec. at rest (p<0.001) and 0.4±0.3 vs. 1.1±0.6

sec (p<0.001) during hyperemia. MP was 1.12±0.11 and 0.98±0.28 ml/min/g (p = n.s.) at rest and 2.46±0.85 vs. 1.86±0.91 ml/min/g (p<0.01) during hyperemia. ROC analysis showed best sensitivity and specificity of 90% and 83% for hyperemic Δtd of >0.6 sec (AUC=0.89) to detect collateral-dependent myocardium, while resting Δtd (AUC= 0.77) or perfusion (AUC = 0.69 at rest or 0.70 during hyperemia) were less accurate.

Conclusions: MRPI derived hyperemic delay of contrast arrival detects collateral-dependent

myocardium with high sensitivity and specificity. Perfusion was less sensitive, emphasizing the clinical role of Δtd for non-invasive detection of collateral-dependent myocardium.

Dyslexia is among the most common neurodevelopmental

disorders, with a prevalence of 5–12%. At the phenotypic level,

various cognitive components that enable reading and spelling

and that are disturbed in affected individuals can be

distinguished. Depending on the phenotype dimension

investigated, inherited factors are estimated to account for up to

80%. Linkage findings in dyslexia are relatively consistent

across studies in comparison to findings for other

neuropsychiatric disorders. This is particularly true for

chromosome regions 1p34–p36, 6p21–p22, 15q21 and

18q11. Four candidate genes have recently been identified

through systematic linkage disequilibrium studies in linkage

region 6p21–p22, and through cloning approaches at

chromosomal breakpoints. Results indicate that a disturbance in

neuronal migration is a pathological correlate of dyslexia at the

functional level. This review presents a summary of the latest

insights into the genetics of dyslexia and an overview of

anticipated future developments.

The central compensation of vestibular tonus imbalance due to

unilateral peripheral vestibular lesions has been repeatedly

documented. Little is known, however, about the central

compensation of vestibular tonus imbalance due to central

lesions. Dorsolateral medullary infarctions (Wallenberg’s syndrome)

typically cause a central vestibular tonus imbalance in

the roll plane with deviations of perceived verticality and

ipsiversive body lateropulsion. The course of normalisation of

the tilts of subjective visual vertical (SVV) in 50 patients who

had acute Wallenberg’s syndrome were retrospectively compared

with that in 50 patients with acute vestibular neuritis. The

initial displacement of SVV was 9.8° in Wallenberg’s syndrome

and 7° in vestibular neuritis. The deviation of SVV significantly

decreased over time within days to weeks in both groups. This

finding shows that the time courses of the central compensation

for dorsolateral medullary infarctions and peripheral vestibular

lesions are similar.