[Nanocarrier in veterinary medicine - a pilot study for the treatment of feline hyperthyroidism with a nano-carrier based thiamazole ointment]. / Nanocarrier in der Tiermedizin ­ eine Pilotstudie zur Behandlung der felinen Hyperthyreose mit auf Nanocarriern basierender Thiamazolsalbe.

INTRODUCTION: The oral treatment of feline hyperthyroidism with antithyroid drugs often results in gastrointestinal side effects (10-20%). To date only oral formulations are approved although the oral application is not tolerated by all cats. Transdermal therapy can be an alternative. Nanocarriers could be used to ensure adequate transport of active agents through the skin. The present pilot study investigated the efficacy and safety of a novel dermal formulation of thiamazole for the treatment of feline hyperthyroidism. For the first time, amphiphilic dendritic core-multishell-nanocarriers were used. Cats with T4 values ≥ 4.0 µg/dl or a T4 value from 3.0-4.0 µg/dl and defined clinical findings were recruited. The euthyroid range for the T4 value was defined from ≥ 0.8 and ≤ 4.0 µg/dl. A total of 24 hyperthyroid cats were included and treated with thiamazole ointment for three weeks (24 cats) up to eight weeks (12 cats). The treatment success was 50% after three weeks and 41,7% after eight weeks. Cats that were within the euthyroid range required after three weeks a mean total dose of 1,09 mg/kg/d (0,68-1,7 mg/kg/d, 12/24) and after eight weeks 1,65 mg/kg/d (1,49-2,04 mg/kg/d, 5/12). No side effects were observed during the three resp. eight-week study period. Variations of the T4 value in companion cats in the same household were comparable to those of an independent control group. Thiamazole ointment based on nanocarriers is suitable for the treatment of feline hyperthyroidism.

INTRODUCTION: Le traitement oral de l'hyperthyroïdie féline avec des médicaments antithyroïdiens entraîne souvent des effets secondaires gastro-intestinaux (10 à 20% des cas). À ce jour, seules les formulations orales sont approuvées, bien que l'application orale ne soit pas tolérée par tous les chats. La thérapie transdermique peut être une alternative. Des nanoporteurs pourraient être utilisés pour assurer un transport adéquat des agents actifs à travers la peau. La présente étude pilote a examiné l'efficacité et l'innocuité d'une nouvelle formulation cutanée de thiamazole pour le traitement de l'hyperthyroïdie féline. Pour la première fois, des nanoporteurs à noyau multicellulaire dendritiques amphiphiles ont été utilisées. Des chats avec des valeurs T4 ≥ 4,0 µg/dl ou une valeur T4 de 3,0­4,0 µg/dl et un tableau clinique définis ont été recrutés. La gamme euthyroïdienne pour la valeur T4 a été définie entre ≥ 0,8 et ≤ 4,0 µg/dl. Un total de 24 chats hyperthyroïdiens ont été inclus et traités avec une pommade au thiamazole pendant une période allant de trois semaines (24 chats) jusqu'à huit semaines (12 chats). Le succès du traitement était de 50% après trois semaines et de 41,7% après huit semaines. Les chats qui se trouvaient dans la gamme euthyroïdienne avaient besoin après trois semaines d'une dose totale moyenne de 1,09 mg/kg/j (0,68­1,7 mg/kg/j, 12/24) et après huit semaines 1,65 mg/kg/j (1,49-2,04 mg/kg/j, 5/12). Aucun effet secondaire n'a été observé pendant les trois respectivement les huit semaines de l'étude. Les variations de la valeur T4 chez les chats vivant dans le même ménage étaient comparables à celles d'un groupe témoin indépendant. La pommade au thiamazole à base de nanoporteurs convient au traitement de l'hyperthyroïdie féline.

[Depression and anxiety disorders among psoriasis patients: protective and exacerbating factors]. / Depression und Angststörung bei Psoriasispatienten: Schutz- und Risikofaktoren.

BACKGROUND: Psoriasis is associated with higher risk for depression and anxiety disorders. Yet the complex system linking disease symptoms with physical and mental outcomes is poorly understood. OBJECTIVES: The central aim of this study was to identify physical, psychological, and social factors that exacerbate or protect against the perception of symptoms of depression and anxiety among individuals starting in-patient treatment for psoriasis. Another aim was to investigate if improved clinical status of the psoriasis is associated with improved psychological and physical wellbeing one year after treatment. MATERIALS AND METHODS: In this follow-up study a sample of 381 psoriasis in-patients in Germany were questioned before starting treatment and one year after treatment (166 participants) using instruments to measure socioeconomic variables, perceived somatic severity, life quality (DLQI, SF-8), feelings of stigmatization (QES), and depression and anxiety (HADS-D). Coping (Trier Coping Scale) and pathological worry (PSWQ-PW) were also measured at the initial time point. Multiple regression analyses of variance for repeated measurements and of correlation were conducted. RESULTS: Self-reported symptoms of anxiety and depression were higher than in normal populations. Perceived severity of physical symptoms was not correlated with depression or anxiety at the initial time point. The strongest predictors of depression and anxiety in our sample were measures of life quality. Life quality was predicted in a large part by stigmatization. Increased momentary symptom severity and increased perceived discomfort over time was not associated with increased perception of symptoms of depression. CONCLUSIONS: Our findings extend previous research on the importance of stigmatization for quality of life to the specific outcome of depression and anxiety. It confirms the desirability of early screening of psoriasis patients for depression and anxiety and initiating treatment by a qualified therapist.

Severe occupational hand eczema, job stress and cumulative sickness absence.

BACKGROUND: Stress is known to activate or exacerbate dermatoses, but the relationships between chronic stress, job-related stress and sickness absence among occupational hand eczema (OHE) patients are inadequately understood. AIMS: To see whether chronic stress or burnout symptoms were associated with cumulative sickness absence in patients with OHE and to determine which factors predicted sickness absence in a model including measures of job-related and chronic stress. METHODS: We investigated correlations of these factors in employed adult inpatients with a history of sickness absence due to OHE in a retrospective cross-sectional explorative study, which assessed chronic stress (Trier Inventory for the Assessment of Chronic Stress), burnout (Shirom Melamed Burnout Measure), clinical symptom severity (Osnabrück Hand Eczema Severity Index), perceived symptom severity, demographic characteristics and cumulative days of sickness absence. RESULTS: The study group consisted of 122 patients. OHE symptoms were not more severe among patients experiencing greater stress and burnout. Women reported higher levels of chronic stress on some measures. Cumulative days of sickness absence correlated with individual dimensions of job-related stress and, in multiple regression analysis, with an overall measure of chronic stress. CONCLUSIONS: Chronic stress is an additional factor predicting cumulative sickness absence among severely affected OHE patients. Other relevant factors for this study sample included the 'cognitive weariness' subscale of the Shirom Melamed Burnout Measure and the physical component summary score of the SF-36, a measure of health-related life quality. Prevention and rehabilitation should take job stress into consideration in multidisciplinary treatment strategies for severely affected OHE patients.

Validation of a method for the determination of aminoglycosides in different matrices and species based on an in-house concept.

A simple, rapid, and sensitive method for the determination and confirmation of the aminoglycosides streptomycin, dihydrostreptomycin, spectinomycin, apramycin, kanamycin, paromomycin, gentamicin and neomycin in cow's milk as well as in bovine and porcine muscle and kidney was developed. Validation was performed on the basis of an in-house concept with different factor-level combinations in accordance with Commission Decision 2002/657/EC. After extraction with trichloroacetic acid solution, clean-up was performed by way of SPE. LC-MS/MS analysis was carried out by means of an HILIC column for the separation of the analytes, and by using MS/MS in positive ESI mode to measure the transitions of the substances in MRM mode. For quantification, matrix calibration curves in the linear range around the MRLs as well as the internal standard tobramycin were used. The calculated validation parameters like CCα, CCß, recovery (94-103%), relative repeatability RSDr (3.6-9.7%), and relative within-laboratory reproducibility RSDwR (4.6-10.0%) fulfilled the requirements of Commission Decision 2002/657/EC.

Perceived relationships between severity of psoriasis symptoms, gender, stigmatization and quality of life.

BACKGROUND: Psoriasis is a skin disease with negative physical, psychological and social repercussions for those affected, but we still lack knowledge of how somatic and non-somatic factors directly and indirectly combine to affect patients' quality of life (QoL). OBJECTIVES: This study seeks a better understanding of the relations between symptom severity, discomfort, stigmatization, gender and QoL among psoriasis patients. METHODS: The sample comprised 381 psoriasis patients in inpatient care. Symptom severity and discomfort were measured subjectively with single items. Stigmatization was measured with the Questionnaire on Experience with Skin Complaints. QoL was measured using the Dermatology Life Quality Index (DLQI) and the Short Form-8 Health Survey (SF-8). RESULTS: Symptom severity was associated with higher discomfort, stigmatization and lower skin-related QoL. Symptom severity correlated weakly with more general aspects of QoL as measured by the SF-8. Men and women reported different experiences with discomfort, stigmatization and mental aspects of QoL (SF-8 mental component summary score). Some stigmatization parameters function as mediating variables between symptom severity and QoL. CONCLUSIONS: Our findings suggest that the effect of stigmatization on skin-related QoL is driven by symptom severity and stigmatization combined, whereas its effect on mental health is driven mostly by stigmatization alone. Further, although women and men experience the social impact of psoriasis differently, the effect of stigmatization on QoL is similar for both genders.

ERG protein expression and genomic rearrangement status in primary and metastatic prostate cancer--a comparative study of two monoclonal antibodies.

BACKGROUND: Overexpression of the ERG protein is highly prevalent in prostate cancer (PCa) and commonly results from gene fusions involving the ERG gene. Recently, N-terminal epitope-targeted mouse and a C-terminal epitope-targeted rabbit monoclonal anti-ERG antibody (ERG-MAbs) have been introduced for the detection of the ERG protein. Independent studies reported that immunohistochemistry (IHC) with both ERG-MAbs highly correlates with the underlying ERG gene rearrangement status. However, comparative studies of both antibodies are lacking. Here, we are among the first to compare the mouse ERG-MAb with the rabbit ERG-MAb for their concordance on the same PCa cohort. Furthermore, we assessed whether the ERG protein expression is conserved in lymph node and distant PCa metastases. METHODS: We evaluated tissue microarrays of 278 specimens containing 265 localized PCa, 29 lymph node, 30 distant metastases and 13 normal prostatic tissues. We correlated ERG protein expression with ERG rearrangement status using an ERG break-apart fluorescence in-situ hybridization assay and IHC of both ERG-MAbs. RESULTS: ERG expression and ERG rearrangement status were highly concordant regardless of whether the mouse or rabbit ERG-MAb was used (97.8% versus 98.6%, respectively). Of interest, both ERG antibodies reliably detected the ERG expression in lymph node and distant PCa metastases, of which a subset underwent decalcification. Lymphocytes only revealed immunoreactivity using the rabbit ERG-MAb. If ERG protein expression was present in localized PCa, we observed the same pattern in the corresponding lymph node metastases. CONCLUSIONS: By demonstrating a broad applicability of IHC to study ERG protein expression using either antibody, this study adds an important step toward a facilitated routine clinical application. Further, we demonstrate that the clonal nature of the ERG rearrangement is not restricted to the genomic level, but proceeds in the proteome. Together, our results simplify future efforts to further eliucidate the biological role of ERG in PCa.

p53 is correlated with low BMI negative progesterone receptor status and recurring disease in patients with endometrial cancer.

OBJECTIVE: P53 tumor suppressor gene plays a role in endometrial carcinogenesis. Former studies described correlations between p53 protein overexpression in endometrial cancer and prognostic factors, measured by immunohistochemistry. But data is still controversial. The aim of this study was to measure p53 and phospho-p53 overexpression by Western blot and evaluate correlations between overexpression and prognostic and clinical factors. Phospho-p53 seems to be the functional p53 protein and was examined for the first time in endometrial cancer. METHODS: 40 patients with endometrial cancer were included in the study. A control group of 20 patients with normal endometrial tissue samples was used. Western blot was performed for detection of p53 and phospho-p53. Clinical and pathological parameters were obtained from medical records. Statistical analysis was performed using the log-rank test, the Mann-Whitney test for two independent groups and the Fisher's exact test for dichotomous groupings. RESULTS: In 17.5% of the patients with endometrial cancer a p53 overexpression could be evaluated. There was a correlation between a p53 overexpression and recurring disease (p: 0.014), a negative progesterone receptor status (p: 0.021) and a low BMI (p: 0.022). Only one of 40 patients had a phospho-p53 expression. CONCLUSION: Western blot is a valid method for the detection of p53 overexpression. As other authors described before, p53 overexpression seems to correlate with negative prognostic factors. The correlation between p53 overexpression and a low BMI may underline the relationship between p53 alterations and biological aggressive endometrial carcinomas.

Skin-reducing Mastectomy with Primary Implant Reconstruction.

Background: We present a series of skin-sparing mastectomies (SSMs) with skin reduction and immediate breast reconstruction to treat large and ptotic breasts. The technique combines oncological mastectomy with immediate subpectoral implant placement as a single-step procedure. Methods: Data was collected from a prospective database from February 2009 to April 2011. A total of 24 patients with macromastia or pronounced ptosis fulfilled the criteria for skin-saving mastectomy. All operations were carried out as a single-step procedure with adaptation of the contralateral breast by reduction mastopexy. Results: A total of 27 SSMs were performed in 24 patients. The mean implant volume was 265 cm3. Immediate reconstruction of the nipple-areola complex was done in 22 patients. The cosmetic and functional results were assessed in all patients 6 months postoperatively; mean follow-up time was 13 months. Mean patient age was 49 years. The cosmetic result was assessed as "very good" or "good" by 22 patients; 2 patients graded the result as "unsatisfactory". There was one local recurrence. Conclusion: Our results support the use of this technique as a safe oncoplastic procedure which is well tolerated by patients.

Prospective randomized comparison of conventional instruments and the Harmonic Focus(®) device in breast-conserving therapy for primary breast cancer.

BACKGROUND: In recent years, surgeons have utilized Harmonic instruments to perform breast cancer resection. Retrospective and prospective studies have demonstrated that the use of this surgical device for mastectomy and axillary dissection can reduce perioperative blood loss, seroma formation, and duration and total amount of drainage. No study has analyzed the feasibility of Harmonic instruments in breast-conserving surgery. We conducted a prospective, randomized clinical trial comparing Harmonic instrument and conventional surgery in the performance of breast-conserving surgery and axillary procedures to determine differences in surgical procedures, postoperative outcome, and complications. METHODS: One hundred and six patients with operable breast cancer who underwent breast-conserving surgery at a single institution between December 2009 and January 2011 were included in the analysis. Surgery was performed in 52 patients with the Harmonic Focus(®) device and in 54 with scissors and electrocautery. This study focused on operative time, drainage volume, and postoperative outcome measures like blood loss, surgery related complications and patient-reported postoperative pain. RESULTS: We found a multivariable independent influence in axillary seroma formation and volume of breast drainage with HS. Evident difference in volume and duration of axillary and breast drainage, subjective and objective postoperative pain, reduction in serum hemoglobin, size and weight of resected breast tissue and length of hospital stay in favor of the Harmonic instrument could also be shown. DISCUSSION: The Harmonic instrument provides key benefits in surgical technique, postoperative outcome, and complication rates in breast cancer surgery.

Confirmatory method for the determination of streptomycin and dihydrostreptomycin in honey by LC-MS/MS.

A method was specifically developed for the determination and confirmation of streptomycin and dihydrostreptomycin in different types of honey. The method is simple, rapid, sensitive and was validated for streptomycin and dihydrostreptomycin in accordance with Commission Decision 2002/657/EC. After extraction with phosphate buffer and a pH change, clean-up was performed via SPE with polymeric phase. LC-MS/MS analysis was carried out using two different HILIC columns for the separation of the analytes and using a triple quadrupole mass spectrometer in positive ESI mode to measure the transitions of the substances in MRM mode. For the quantification of both substances, matrix calibration curves in a linear range of 5-80 g kg(-1) were used. The validation parameters established for streptomycin and dihydrostreptomycin, CCα (11.8 and 11.5 µg kg(-1), respectively), CCß (18.9 and 19.9 µg kg(-1), respectively), recovery (97 and 101%, respectively) and the relative within-laboratory reproducibility RSD(wR) (16.4 and 20.8%, respectively) at the recommended concentration of 40 µg kg(-1), fulfil the requirements of Commission Decision 2002/657/EC.

Severe phenotype in a girl with partial tetrasomy 7, karyotype 46,XX,trp(7)(q35q36).

On prenatal ultrasonography, polyhydramnion, internal hydrocephalus, hypoplasia of the corpus callosum, and dysmorphic features were detected in a fetus of a 22-year-old mother. Subsequent karyotyping of amniocytes revealed supernumerary material in distal 7q. The baby was delivered after 38+4 weeks of gestation, and postnatal array CGH analysis showed a triplication of 7q35-->q36, resulting in partial tetrasomy. The triplication was not distinguishable from a duplication by conventional and molecular cytogenetic methods, but was clearly identified by array CGH analysis. The phenotype was rather severe with limited cardiac contractility and subsequent respiratory problems, as well as progressive neurologic deterioration and several dysmorphic features. Triplications in general are rare, and this case is the first report of a microscopically visible triplication in 7q. Duplication patients of the same chromosomal segment also showed a severe phenotype, however, in our opinion there are no common features suggesting a clinically recognizable distal 7q duplication/triplication syndrome.

Multi-method for the determination of antibiotics of different substance groups in milk and validation in accordance with Commission Decision 2002/657/EC.

The presented method is able to analyse 47 substances of the antibiotic groups tetracyclines, quinolones, macrolides, sulfonamides, diamino-pyrimidine derivatives and lincosamides simultaneously in a single analytical run. Applying an in-house validation concept, the validation of the multi-method was successfully accomplished with a low number of experiments. Each substance was validated at least at the concentrations 0.5, 1.0 and 1.5MRL (maximum residue limit), or respectively, at concentrations as low as possible for substances without MRL. The calculated relevant validation parameters, e.g. the decision limit CCalpha, the detection capability CCbeta, the repeatability, the within-laboratory reproducibility and the recovery, are in an acceptable range and in compliance with the requirements of Commission Decision 2002/657/EC. A proficiency test and the implementation of the method by other laboratories were performed successfully.

Biochemical and molecular genetic characterisation of a novel laccase produced by the aquatic ascomycete Phoma sp. UHH 5-1-03.

A laccase from the aquatic ascomycete Phoma sp. UHH 5-1-03 (DSM 22425) was purified upon hydrophobic interaction and size exclusion chromatography (SEC). Mass spectrometric analysis of the laccase monomer yielded a molecular mass of 75.6 kDa. The enzyme possesses an unusual alkaline isoelectric point above 8.3. The Phoma sp. laccase undergoes pH-dependent dimerisation, with the dimer ( approximately 150 kDa, as assessed by SEC) predominating in a pH range of 5.0 to 8.0. The enzyme oxidises common laccase substrates still at pH 7.0 and 8.0 and is remarkably stable at these pH values. The laccase is active at high concentrations of various organic solvents, all together indicating a considerable biotechnological potential. One laccase gene (lac1) identified at the genomic DNA level and transcribed in laccase-producing cultures was completely sequenced. The deduced molecular mass of the hypothetical protein and the predicted isoelectric point of 8.1 well agree with experimentally determined data. Tryptic peptides of electrophoretically separated laccase bands were analysed by nano-liquid chromatography-tandem mass spectrometry. By using the nucleotide sequence of lac1 as a template, eight different peptides were identified and yielded an overall sequence coverage of about 18%, thus confirming the link between lac1 and the expressed laccase protein.

Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia.

BACKGROUND: Deletions of 11q23 are associated with mental retardation, craniofacial dysmorphism, microcephaly and short stature. We present a patient with similar clinical findings, in addition to absence of the thumbs, hypoplasia of the radii and ulnae, additional vertebrae and ribs, retarded bone age and genital hypoplasia. METHODS: Genomic DNA from the patient was screened for chromosomal imbalances by array-based comparative genomic hybridisation. DNA sequence analyses and reporter gene assays were performed in order to identify candidate gene mutations. RESULTS: The patient has an approximately 8 Mbp de novo deletion on the paternal chromosome 11, which includes the promyelocytic leukaemia zinc-finger gene (PLZF, ZBTB16; OMIM 176797). The maternal PLZF allele harbours a recessive missense mutation (c.1849A-->G), which leads to the substitution of a highly conserved methionine by valine (p.Met617Val) within a zinc-finger motif. Taking into account specific alpha-helical propensities of Val and Met, this mutation is likely to destabilise the alpha helix of the zinc finger that forms the contact with the DNA duplex, thus affecting the biological function as shown by reporter-gene assays. DISCUSSION: The PLZF gene is one of five partners fused to the retinoic acid receptor alpha in acute promyelocytic leukaemia. We describe the first patient, to our knowledge, with a germline mutation of PLZF. Our findings as well as observations in Plzf-deficient mice indicate that PLZF is a key regulator of skeletal and male germline development. Furthermore, this case highlights the importance of searching for a recessive mutation on the non-deleted chromosome in patients with a microdeletion and atypical clinical findings.

[Open reconstruction of the rotator cuff]. / Offene Rekonstruktion der Rotatorenmanschette.

Success rates relating to relief from pain and improved function following open reconstruction of the rotator cuff have been documented in many studies. At least for small to medium-size tears the question currently arises of whether an arthroscopic repair would not also give good treatment results. At present, however, the results of arthroscopic repair are not yet comparable to those yielded by the open techniques, at least in terms of recurrent defects especially in the case of massive tears (affecting more than two tendons). Open surgical repair is currently still recommended for all patients who require maximal postoperative function and strength and for elderly patients. Open repairs have a lower rate of re-rupture than arthroscopic repairs, but arthroscopic repair offers the benefits of lower morbidity. The decision on which technique is indicated should be made by an experienced surgeon with special training in this area and with due consideration for newer aspects in diagnostic imaging techniques, so as to avoid unsatisfactory results. In certain cases of irreparable cuff tears affecting two tendons and with fatty infiltration of the muscle and substantial loss of function muscle transfer can be considered in active patients; this can offer some functional improvement in the medium to long term, but do not lead to full restoration of function.

Failure of phospholipid hydroperoxide glutathione peroxidase expression in oligoasthenozoospermia and mutations in the PHGPx gene.

Phospholipid hydroperoxide glutathione peroxidase (PHGPx) is a selenoprotein belonging to the family of glutathione peroxidases. PHGPx has long been considered a major antioxidant that, in cooperation with vitamin E, protects biomembranes. To determine the expression pattern of PHGPx mRNA in human, quantitative RT-polymerase chain reaction (PCR) analyses using RNA from different embryonal and adult tissues were performed. A predominant expression was found in testes. In spermatozoa, PHGPx was found to be localized in the mid-piece of spermatozoa. We studied the relationship between spermatozoa PHGPx expression, mutations in PHGPx gene and human oligoasthenozoospermia, a defect in which both the number and the motility of spermatozoa are significantly below normal. Spermatozoa specimens from 45 infertile males were analysed for fertility-related parameters according to World Health Organisation and were classified as suffering from oligoasthenozoospermia. Two patients (4.44%) showed no expression of PHGPx and in nine patients (20.00%), a reduced expression of the enzyme was observed. DNA sequences of various regions of the PHGPx gene (coding, 5'flanking region and intron 1) from these patients and 58 fertile volunteers were analysed for mutations by PCR amplification and direct sequencing. Sequence data revealed no cause/effect relationship for any of the variants. From these data it can be concluded that oligoasthenozoospermia is associated with a decrease in the level of expression of PHGPx in the spermatozoa of some infertile men (24.44%), but is not linked to mutations in PHGPx gene.

Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion.

We report on a young woman with Jacobsen syndrome (JBS) who was admitted to our psychiatric department because of a bipolar affective disorder (BPAD). Chromosome analysis was performed due to the fact that she had mental retardation, short stature, and subtle facial anomalies. A deletion of the distal long arm of chromosome 11 was found. A detailed mapping of the deletion breakpoint by quantitative real time PCR revealed a true terminal 11q deletion of approximately 8 Mb corresponding to the karyotype 46,XX,del(11)(q24.2). Polymorphic DNA marker analysis showed that the deletion is located on the paternal chromosome. Additionally, laboratory investigations revealed a low platelet count and magnetic resonance imaging of the brain showed white matter T2 hyperintensities in frontotemporal regions, which are unlikely to result from a demyelinating process as indicated by localized proton magnetic resonance spectroscopy. To our knowledge, this is the first report describing a BPAD in a case with JBS.

[Evaluation of a simple test for shoulder function in patients with surgically treated rotator cuff injuries]. / Prüfung eines einfachen Schulterfunktionstests an operativ behandelten Patienten mit Rotatorenmanschettendefekt.

INTRODUCTION: To assess overall shoulder function a simple examination of the range of motion and strength may not be sufficiently representative. because the shoulder in its daily use is often required for repetitive activities, fatigue at an early stage could be a sign of disturbed shoulder function. Therefore the shoulder function test (SFT) was created to incorporate the factor time into shoulder assessment. With this study the SFT was evaluated for its clinical use in the prospective follow-up of a series of patients operated on for rotator cuff tears. METHODS: Using forward flexion, the patient had to lift a 500-g weight onto a shelf placed at a height which he could reach with his extended arm. The achieved height (5 levels possible) and the time he needed for 5 repetitions were recorded. The SFT value was calculated by division of the time required by the level of the reached shelf. Thus, a lower SFT score represents a better shoulder function. This was tested on 45 patients prior to rotator cuff repair and at 3, 6 and 12 months postoperatively. As validation the SF-36 and the Constant score were evaluated in parallel. Construct, criterion, content and discriminative validity and responsiveness were calculated Results: At all assessments the SFT correlated with the Constant score (r = - 0.47 to r = - 0.62) and the SF-36 (r = - 0.26 to r = - 0.61) demonstrating construct validity. As criterion validity the SFT correlated with the reported pain (r = 0.34 to r = 0.61), patients' self-estimation (r = 0.38 to r = 0.59) and doctors' estimation of the patients shoulder function (r = 0.36 to r = 0.54). Known groups validity was positive as the SFT could differentiate between shoulders with and without rotator cuff tears. The SFT demonstrated a good responsiveness with significant improvement (p = 0.01) after rotator cuff repair. CONCLUSION: Repetitive forward flexion is an important function of the shoulder in daily activities. The SFT allows a reliable and valid quantitative measurement of this function. In order to improve functional assessment of the shoulder and scoring we would recommend using this patient- and function-orientated test in combination with the Constant score to document the current status of shoulder function.

First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter --> q22.1::q22.1 --> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndrome.

Isopseudodicentric chromosome 18 is very rare and results in a combination of partial trisomy and partial monosomy of chromosome 18. We report here a hypotrophic newborn with a lateral cleft lip and palate and multiple craniofacial dysmorphisms, a combined heart defect, unilateral hypoplasia of the kidney, bilateral aplasia of thumbs, and generalized contractures. Cytogenetic analysis revealed an isopseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter --> q22.1::q22.1 --> pter)). The isopseudodicentric chromosome 18 was observed in 100% of blood lymphocytes and umbilical cord fibroblasts, thus indicating a non-mosaic finding of the isopseudodicentric chromosome in the child. An elongated derivative chromosome 18 had also been found prenatally in amniotic cells. In contrast, a terminal deletion (18q-) was detected in placental cell cultures. The breakpoint was mapped to a 0.9 Mb region on 18q22.1 (located 64.8-65.7 Mb from the telomere of the p-arm) by a novel quantitative PCR approach with SYBR green detection. The results indicate an identical breakpoint of the isopseudodicentric chromosome 18 in the child and the 18q- chromosome in the placenta. To our knowledge this is the first report that a fetus carrying an isopseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter --> q22.1::q22.1 --> pter)) in non-mosaic form can be viable, but is associated with severe congenital malformations of the child.

[Design and evaluation of the Extra Short Musculoskeletal Function Assessment Questionnaire XSMFA-D]. / Entwicklung und Evaluierung der Kurzversion des Funktionsfragebogens Bewegungsapparat XSMFA-D.

AIM: The XSMFA-D (German Extra Short Musculoskeletal Function Assessment Questionnaire) was developed on the basis of the SMFA-D to provide a short questionnaire for assessment of the functional status from patient's perspective in routine use. METHODS: Based on psychometric and medical aspects 16 items were extracted from the SMFA-D during an iterative process. 633 SMFA-D questionnaires of 199 patients were used as basic data. The XSMFA-D was evaluated on 67/51 patients with primary osteoarthritis of the knee/hip undergoing total joint replacement. RESULTS: The tests for reliability and internal consistency produced favorable results. The Knee Score, Harris Hip Score, WOMAC and SMFA-D showed significant correlations to the XSMFA-D indicating construct validity. The criterion validity could be demonstrated successfully by relations with external parameters like walking distance, patients reported pain, mobility judgements by physicians and degree of osteoarthritis. The discriminant validity could also be demonstrated by significant differences between several different patient groups. Almost all effect sizes were generally large. CONCLUSIONS: The XSMFA-D could be demonstrated to be an appropriate short questionnaire for the evaluation of therapy results from patient's perspective. The use of the XSMFA-D can be recommended for routine use. Further investigations of the instrument will be undertaken.