Clinical characteristics and outcome of patients with enterococcal liver abscess.

Epidemiology of bacteria isolated from pyogenic liver abscesses change, and an increase in enterococci has been reported in European hospitals. The aim of this study was to investigate the clinical characteristics and outcome of enterococcal PLA. We performed a retrospective analysis of patients with microbiologically confirmed PLA at three German university centers. Indicators of enterococcal PLA were determined using binary logistic regression, and survival analysis was performed using Kaplan-Meier statistics and Cox regression analysis. Enterococci were isolated in 51/133 (38%) patients with PLA. Patients with enterococcal PLA had smaller abscess diameter (4.8 vs. 6.7 cm, p = 0.03) than patients with non-enterococcal PLA, but had more frequent polymicrobial culture results. In univariate logistic regression analysis, alcohol abuse (OR 3.94, 95% CI 1.24-12.49, p = 0.02), hepatobiliary malignancies (OR 3.90, 95% CI 1.86-8.18, p < 0.001) and cirrhosis (OR 6.36, 95% CI 1.27-31.96, p = 0.02) were associated with enterococcal PLA. Patients with enterococcal PLA had a higher mortality than patients with non-enterococcal PLA (hazard ratio 2.92; 95% confidence interval 1.09-7.80; p = 0.03), which remained elevated even after excluding patients with hepatobiliary malignancies, cirrhosis, and transplant recipients in a sensitivity analysis. The increased mortality was associated with non-fecal enterococci but not in patients with Enterococcus faecalis. In this retrospective, multicenter study, enterococcal PLA was common and indicated an increased risk of mortality, underscoring the need for close clinical monitoring and appropriate treatment protocols in these patients.

Reciprocal Relationships: the Genetic Counselor-Patient Relationship Following a Life-Limiting Prenatal Diagnosis.

Utilizing the tenet, "Relationship is integral to the genetic counseling process" from the Reciprocal Engagement Model (REM) of genetic counseling practice, this study sought to explore the relationship between the genetic counselor and patient following a "life-limiting" prenatal diagnosis that resulted in a major loss (termination, stillbirth/miscarriage, or neonatal death). The specific aims of this study were to: 1) Understand and describe aspects of the genetic counselor-patient relationship in the context of the life-limiting prenatal diagnosis, and identify characteristics and actions of the 2) genetic counselor and 3) patient that influence the relationship. Genetic counselor (GC) participants were recruited via a web-based survey distributed by NSGC and the NSGC Prenatal SIG. Eligible GCs maintained a relationship with a patient beyond the prenatal diagnosis and had a willing patient participant. Individual 60-min audio-recorded telephone interviews were conducted with eight GC and 8 respective patients (n = 16) using parallel interview guides (n = 16). Transcriptions underwent thematic content analysis for systematic coding and identification of emergent themes. The GC-patient relationship was characterized by the evolution of communication and promoted by the supportive needs of the patient, the nature of the diagnosis, and characteristics and supportive actions of the participants. This exploratory study highlights the unique service of support offered by genetic counselors in the context of a life-limiting prenatal diagnosis.

High and novel genetic diversity of Francisella tularensis in Germany and indication of environmental persistence.

In Germany tularemia is a re-emerging zoonotic disease. Therefore, we investigated wild animals and environmental water samples for the presence and phylogenetic diversity of Francisella tularensis in the poorly studied Berlin/Brandenburg region. The phylogenomic analysis of three isolates from wild animals revealed three new subclades within the phylogenetic tree of F. tularensis [B.71 from a raccoon dog (Nyctereutes procyonoides); B.74 from a red fox (Vulpes vulpes), and B.75 from a Eurasian beaver (Castor fiber albicus)]. The results from histological, PCR, and genomic investigations on the dead beaver showed that the animal suffered from a systemic infection. Indications were found that the bacteria were released from the beaver carcass into the surrounding environment. We demonstrated unexpectedly high and novel phylogenetic diversity of F. tularensis in Germany and the fact that the bacteria persist in the environment for at least one climatic season. These findings support a broader host species diversity than previously known regarding Germany. Our data further support the assumption derived from previous serological studies of an underestimated frequency of occurrence of the pathogen in the environment and in wild animals. F. tularensis was isolated from animal species not previously reported as natural hosts in Germany.

Association of ferritin antibodies with Takayasu arteritis.

Takayasu arteritis (TA) is difficult to diagnose because diagnostic biomarkers have not yet been established. In a previous study, we detected autoantibodies against the human ferritin heavy chain protein (HFC) in the sera of patients with giant cell arteritis (GCA) and/or polymyalgia rheumatica (PMR). The aim of this study is to evaluate the frequency of autoantibodies against HFC in TA. We established seven ELISA assays for the detection of autoantibodies against HFC. We used the full-length recombinant HFC expressed in Escherichia coli or one of six different HFC peptides as autoantigens: 1-18Aa (98.8 % purity), 19-45Aa (98.8 % purity), 52-78Aa (98.3 % purity), 79-104Aa (98.8 % purity), 105-143Aa (98.4 % purity) and 145-183Aa (98.5 % purity). We collected sera from 48 patients with TA, 36 patients with systemic lupus erythematosus (SLE), 35 patients with arteriosclerosis, 133 patients with febrile diseases, which are known to generate unspecific autoantibodies, and 50 blood donors, which served as controls. The best results were obtained using the ferritin peptides as antigens. By combining the results from the different ELISAs that detect autoantibodies against the HFC peptides 19-44A, 79-104A and 105-144A, we were able to detect ferritin peptide antibodies in 30/48 (62 %) of the TA patients. The frequency was lower than in early GCA and PMR (previous study showed up to 92 %). Positive results were observed in 0/50 (0 %) of the control blood donors, 10/36 (28 %) of the SLE patients, 4/35 (11 %) of the arteriosclerosis patients and 27/133 (20 %) of the fever patients. Considering the lack of biomarkers for TA, autoantibodies against HFC peptides could act as useful markers for TA.

Epitope mapping of antibodies against ferritin heavy chain in giant cell arteritis and polymyalgia rheumatica.

OBJECTIVES: In a previous study we found an association between antibodies against the human ferritin heavy chain (HFC) protein and giant cell arteritis (GCA) and/or polymyalgia rheumatica (PMR), especially in GCA/PMR patients prior to glucocorticoid treatment. Antibodies against the N-terminal part of ferritin were present in 92% of untreated patients, 69% of patients with disease flare, and 13% of patients in remission. These antibodies appeared to be markers for the early detection of a disease complex usually diagnosed with considerable delay. Our aim in this study was to optimize the diagnostic test by epitope mapping of antibodies against HFC using peptide antigens in enzyme-linked immunosorbent assays (ELISAs). METHOD: We evaluated serum samples from a selected group of GCA/PMR patients in whom the sensitivity of antibodies against the N-terminal ferritin peptide was only 35%. Patients with late-onset rheumatoid arthritis (LORA), patients with fever, patients with granulomatosis with polyangiitis (GPA), patients without any autoimmune disease at age > 65 years, and blood donors served as controls. RESULTS: By combining different ELISAs we were able to increase the frequency of human ferritin peptide antibodies in GCA/PMR (p < 0.0001) without significantly altering the false-positive rate (FPR) of the diagnostic test. The frequency of antibodies against human ferritin peptide increased from 53% to 74% in GCA/PMR patients with disease flare, from 29% to 40% in GCA/PMR patients in partial remission, and from 8% to 45% in GCA/PMR patients in complete remission. CONCLUSIONS: The potential diagnostic test for GCA/PMR can be improved by combining three human ferritin peptide antibodies.

Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on L-carnitine supplementation.

Expanded newborn screening (NBS) for free carnitine levels has led to the identification of a larger number of heterozygous infants of undiagnosed mothers affected with systemic primary carnitine deficiency (PCD), which in turn leads to the identification of other undiagnosed heterozygous family members. There is an increasing recognition that individuals heterozygous for mutations of genes involved in fatty acid oxidation (FAO) may become symptomatic under environmental stress (fasting, prolonged exercise and illness). Considering the importance of carnitine in FAO, its role in heart and bowel function and in lipid metabolism, what is still little known is the phenotypic variability, biochemical parameters and clinical course of PCD heterozygotes with consistently low-to-normal levels to low levels of carnitine over a lifetime. We report on three generations of a family--an asymptomatic PCD heterozygous infant identified through NBS that led to the diagnosis of her asymptomatic PCD-affected mother and the heterozygous status of the maternal grandparents who report some cardiac symptoms that overlap with PCD that improved with L-carnitine supplementation.

[Evaluation of a multimodal pain therapy at the University Pain Centre Dresden]. / Evaluation einer multimodalen Schmerztherapie am UniversitätsSchmerzCentrum Dresden.

BACKGROUND: Data of a multimodal pain management program of the multidisciplinary pain management centre at the University Hospital of Dresden is presented. Over a period of 4 weeks, supplemented by an additional week 3 months later (booster week), patients with chronic pain of different origins are being treated in groups of 12. Based on the principles of the biopsychosocial pain model and the idea of functional restoration, the program is dedicated for pain patients where outpatient treatment was insufficient. METHODS: The program was evaluated on the basis of pain intensity (NRS), pain disability (PDI), fear and depression (HADS-D), catastrophizing (CSQ) and health-related quality of life and vitality (SF-36). The data were collected at the beginning and end of the initial 4 week treatment period, at the end of the booster period as well as 6 and 12 months after the end of active treatment. RESULTS: A total of 189 patients were included in the program in the period from January 2006 until August 2008. All outcome parameter showed statistically significant improvements with small to high effect sizes (ES 0.20-0.95). The results stayed stable even 1 year after the treatment. The highest effect sizes were found in catastrophizing (ES 0.86) and average pain intensity (ES 0.95). The primary pain diagnosis (e. g. low back pain versus headache) had no impact on treatment outcome. CONCLUSION: Significant and clinically relevant improvements could be achieved with the multimodal pain management program in groups of 12 patients. The results were stable over a time period of 1 year. Pain diagnosis had no impact on the outcome.

High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota.

Newborns identified with profound biotinidase deficiency (BTD) by the Minnesota Newborn Screening Program (MN NBS) between 1 October 2004 and 30 May 2008 were all from new immigrant groups. Thirty-three positive cases of BTD were identified out of 264 727 infants screened by the Wolf colorimetric system during the period of this study by MN NBS. Five cases of profound BTD (0.1 to <0.6 nmol/min per ml) and 26 cases of partial BTD (0.9 to 2.3 nmol/min per ml) were later confirmed through measurement of serum biotinidase activity. The incidence of combined partial and profound BTD of 1/8540 and that of profound BTD of 1/52 945 in Minnesota are unusually high in comparison with the reported worldwide numbers of 1/61 067 for combined BTD and 1/137 401 for profound BTD. Four out of the 5 cases of profound BTD ascertained in the MN NBS cohort were of Somali ethnic background, and the remaining case was of Asian (Pakistani/Indian) ethnic background. All four Somali patients have the P497S mutation, with one of the four being homozygous for the mutation. The three compound heterozygotes all have a novel mutation (P142T) and two of them have another change (Y428Y) that has never been described. Within the last two decades, Minnesota has become home to an estimated 40 000 Somali immigrants and their children (<1% of the total Minnesota population). New population demographics prompt careful analysis of case cohorts to identify specific groups at risk for rare inborn errors of metabolism.

[Patient care in nursing homes by the family physician]. / Hausärztliche Betreuung des Heimpatienten. Vermeiden Sie Uberdiagnostik und Polypragmasie.

When treating the acute and chronic diseases of nursing home residents, the family physician must consider the patient's decreased ability to make decisions and shortened life expectancy in each case. Nurses tend the elderly people, help them wherever it is necessary, have time to listen to the hardships and worries of their charges and are an irreplaceable help to the family physician for observing patients and assessing the measures taken based on these observations.

[Guideline skating for the family doctor]. / Werden wir Hausärzte zu Medizinrobotern degradiert?

The sheer mass of guidelines sometimes gives the physician more of a headache rather than the support in his diagnostic and therapeutic endeavors--which is the actual service they are supposed to provide. Indeed, different guidelines exist for one and the same disease--it all boils down to the specialty concerned. Furthermore, proof of the quality of the individual medical guidelines is often lacking. Some doctors also worry that their individual work with the patient is degenerating ever more into an automated standardized process.

[Dying with dignity: The perspective of the family doctor]. / Vorbereitung auf den Abschied.

The medical possibilities of keeping a patient alive with the aid of drugs and technical aids are constantly expanding. A more difficult decision that the care-providing physician is called upon to make is: when is the point reached when further treatment no longer makes sense? From here on, the objective is to enable the patient to die with dignity,which entails allowing him/her and relatives the opportunity to take their leave of one another.

Does contrast medium administration in organ donors affect early kidney graft function?

Since the upper age for organ donors has been raised, a higher incidence of preexistent organ damage and functional impairment is to be expected. Coronary artery sclerosis increases with age. It can only be diagnosed with certainty by coronary angiography. Since contrast medium administration may cause renal damage when risk factors are present, this study sought to establish whether angiography negatively influenced the early postoperative function of kidney grafts. We compared the clinical courses of 36 recipients of kidneys from donors in whom coronary angiography or levography had been performed with 36 recipients of kidneys from donors who had not been subjected to contrast medium. The results showed that the administration of contrast medium had no influence on renal function at 3 or 6 months after transplantation. In conclusion, fears that donor kidneys might be harmed by contrast medium appeared to therefore be unfounded.

Monosomy 1p36--a recently delineated, clinically recognizable syndrome.

Monosomy 1p36 is a recently delineated contiguous gene syndrome, which is now considered to be one of the most common subtelomeric microdeletion syndromes. We report four unrelated patients with subtle deletions within 1p36 confirmed by high resolution karyotyping and FISH. All exhibited severe psychomotor retardation. Microcephaly, seizures, and visual impairment occurred in three subjects. Results of a first routine karyotyping were unrevealing in three probands. The diagnosis was primarily suggested on the basis of a distinct pattern of facial anomalies in all except the first case. This report illustrates that monosomy 1p36 may be recognized clinically, at least in some patients, whereas the diagnosis is easily missed on routine karyotype.

[Propane abuse. Extreme dose increase due to development of tolerance]. / Propanmissbrauch. Extreme Dosissteigerung durch Toleranzentwicklung.

In spite of its serious sequelae, volatile substance abuse (VSA) attracts very little public attention in Germany. Our case report describes an adult male who inhaled propane for recreational purposes. Initially, he achieved short-lived euphoria and hallucinations. He compensated for the developing tolerance by increasing the dosage, finally consuming 5 litres of fluid propane daily. Getting such quantities was facilitated by his occupational access to propane. Since he abused the propane in an apartment house, he also exposed third parties to the danger of explosion. Clinical examination revealed disturbances in orientation, restricted perceptivity and concentration, reduced mnemonic performance, and psychomotor agitation. All these symptoms diminished during a 6-month follow-up. The relationship of his organic mental disorder to the abuse of propane was not clear, since he had also abused alcohol.

Renal cell carcinoma in a transplanted kidney: successful organ-preserving procedure.

We report a case of a de novo renal cell carcinoma in a transplanted kidney, which was detected 3 years after the transplantation. The tumor was excised under hypothermia and perfusion. Immunosuppression was not stopped and the function remained excellent. Close-mesh follow-up of 45 months showed no evidence or recurrence or metastasis.

[Lysozyme concentrations in the intestinal mucosa in malabsorption syndromes and chronic inflammatory intestinal diseases]. / Lysozymkonzentrationen in der Darmschleimhaut bei Malabsorptions-syndromen und chronisch-entzündlichen Darmerkrankungen.

Lysozyme levels were determined in the mucosa of gut in 80 children with chronic inflammatory bowel disease, malabsorption and acrodermatitis enteropathica.l Levels of lysozyme in the mucosa of colon were found to be significantly higher in cases with chronic inflammatory bowel disease, whereas in children with malabsorption (celiac disease) concentration of lysozyme in the mucosa of small intestine were significantly lower compared to a control group. In a 4 months old boy with acrodermatitis enteropathica there was a low level of lysozyme in the mucosa of the small intestine. After therapy with zinc for one year concentration of lysozyme was normalized.