Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease

Chondrodysplasia punctata (CDP) is an etiologically heterogeneous disorder characterized by the radiographic finding of stippled epiphyses (punctate calcifications). It is often accompanied by a characteristic facial appearance, known as the Binder phenotype, which is attributed to hypoplasia of the nasal cartilages; abnormal distal phalanges (brachytelephalangy) are a common component manifestation as well. We report eight patients with a Binder phenotype with or without CDP who all shared a known or suspected maternal deficiency of vitamin K. We suspect that this phenotype is probably under recognized, and we hope to increase awareness about the maternal risk factors, especially hyperemesis gravidarum, which lead to nutritional deficiency. © 2013 Wiley Periodicals, Inc.     

Proximal and distal 15q25.2 microdeletions–genotype–phenotype delineation of two neurodevelopmental susceptibility loci

Distal 15q25.2 microdeletions have recently been reported as a copy number variation (CNV) locus for neurodevelopmental and neuropsychiatric disorders with variable outcome. In addition, more proximal microdeletions of 15q25.2 have been described as a susceptibility locus for cognitive deficits, congenital diaphragmatic hernia (CDH), and Diamond–Blackfan anaemia (DBA). We describe two patients with 15q25.2 deletion, one with the more distal deletion and the other with a deletion overlapping both the distal and proximal 15q25.2 deletions and compare them to the 18 so far reported patients with 15q25.2 deletions. We provide a characterization of the 15q25.2 microdeletions and contribute to the genotype–phenotype delineation for these two novel microdeletion syndromes. © 2012 Wiley Periodicals, Inc.     

A systematic review of staff training interventions to reduce the behavioural and psychological symptoms of dementia

Behavioural and psychological symptoms of dementia (BPSD) are highly prevalent and problematic in care settings. Given the limited effectiveness of medical treatments, training care staff to understand and manage these symptoms is essential for the safety and quality of life of people with dementia. This review evaluated the effectiveness of staff training interventions for reducing BPSD. A systematic literature search identified 273 studies. Twenty studies, published between 1998 and 2010, were found to meet the inclusion criteria. Overall, there was some evidence that staff training interventions can impact on BPSD: twelve studies resulted in significant symptom reductions, four studies found positive trends and four studies found no impact on symptoms. No links were found between the theoretical orientation of training programmes and their effectiveness. Training was also found to impact on the way staff behaved towards residents. A quality screening, using pre-specified criteria, revealed numerous methodological weaknesses and many studies did not adhere to the recommended guidelines for the conduct of cluster randomised controlled trials. There is an urgent need for more high quality research and evidence-based practice in BPSD.     

Factors associated with external ventricular drain placement accuracy: data from an electronic health record repository

Background

We evaluated external ventricular drain placement for factors associated with placement accuracy. Data were acquired using an electronic health record data requisition tool.

Method

Medical records of all patients who underwent ventriculostomy from 2003 to 2010 were identified and evaluated. Patient demographics, diagnosis, type of guidance and number of catheter passes were searched for and recorded. Post-procedural hemorrhage and/or infection were identified. A grading scale was used to classify accuracy of catheter placements. A multiple logistic regression model was developed to assess features associated with accurate catheter placement.

Results

One hundred nine patients who underwent 111 ventriculostomies from 2003 to 2010 were identified. Patient diagnoses were classified into vascular (63 %), tumor (21 %), trauma (14 %), and cyst (2 %). Procedures were performed freehand in 90 (81 %), with the Ghajar guide in 17 (15 %), and with image guidance in 4 (4 %) patients. Eighty-eight (79 %) catheters were placed in the correct location. Trauma patients were more likely to have catheters misplaced (p?=?0.007) whereas patients in other diagnostic categories were not significantly associated with misplaced catheters. Post-procedural hemorrhage was noted in 2 (1.8 %) patients on post-procedural imaging studies. Five (4.5 %) definite and 6 (5.4 %) suspected infections were identified.

Conclusions

External ventricular drain placement can be performed accurately in most patients. Patients with trauma are more likely to have catheters misplaced. Further development is required to identify and evaluate procedure outcomes using an electronic health record repository.     

Medizin aus dem Computer

Small molecules can have a significant effect on human metabolic processes. Computational drug design aims at constructing specialized small molecules that selectively and efficiently address specific proteins. The basic ideas of computational molecular design are presented and it will be shown how a virtual protein can be computer designed. This virtual protein can be used to predict the binding affinity of given small molecules without having to synthesize them in a laboratory. Modern computational drug design goes far beyond the lock and key principle. Possible future developments are discussed and a current successful example of computational drug design in the field of painkiller medication is demonstrated.     

Basisalgorithmus für „Point-of-Care“ basierte Hämotherapie

During perioperative treatment of coagulopathic patients the so-called Point-of-Care (POC) analyses enable more rapidly available and more comprehensive hemostatic analyses compared to routinely performed conventional coagulation testing, such as activated partial thromboplastin time (aPTT), international normalized ratio (INR), fibrinogen concentration and platelet count. In this review article a hemotherapy algorithm is presented which is based on viscoelastic and aggregometric POC measurements. The algorithm was designed double sided and consists of a general and a special part. The general part contains boxes and fields for sociodemographic data and gives general recommendations for coagulation management and therapy specifications for particular patient collectives and presents proposals for emergency reversal of anticoagulation therapy. The special part refers to basic physiological conditions for hemostasis and asks for measurement results of clot initiation, clot firmness, clot stability and platelet function analyses. Reference values were defined for each parameter and therapeutic options are presented. In cases of persistent coagulopathy despite algorithm-conform therapy, the algorithm could be run through once again. Finally, the algorithm presents therapeutic options for an ultima ratio therapy approach.     

Aspekte der perioperativen Behandlung von Diabetespatienten

Diabetes is a common disease in Germany. Due to diabetes-associated end-organ disease, such as large and small vessel disease and neuropathy, diabetic patients require more intense anesthesia care during the perioperative phase. An in-depth and comprehensive medical history focusing on hemodynamic alterations, gastroparesis, neuropathy and stiff joint syndrome is a cornerstone of perioperative care and may affect outcome of diabetes patients more than specific anesthetic medications or the anesthetic procedure. Intraoperative anesthetic care needs to focus on preservation of hemodynamic stability, perioperative infection control and maintenance of glucose homeostasis. Whereas some years ago strict glucose control by aggressive insulin therapy was adamantly advocated, the results of recent studies have put the risk of such therapeutic algorithms into perspective. Therefore, optimized perioperative care of diabetic patients consists of setting a predefined targeted blood glucose level, evidence-based therapeutic approaches to reach that goal and finally adequate and continuous monitoring and amendment of the therapeutic approach if required.