Blastocyst Injection of Embryonic Stem Cells: A Simple Approach to Unveil Mechanisms of Corrections in Mouse Models of Human Disease

Embryonic stem cell (ESC) research is a promising area of investigation with enormous therapeutic potential. We have injected murine wild type (WT) ESCs into a variety of mutant murine blastocysts, which are predisposed to develop a human-like disease, such as muscular dystrophy or the embryonic lethal “thin myocardial syndrome”. In this review, we summarize data indicating that partial incorporation of ESCs is sufficient to prevent disease from occurring. We also present data indicating that blastocyst incorporation of ESCs may aid in the prevention of heart failure in stressed WT mice. In some cases, the rescue observed is predominantly non-cell autonomous and relies on the production of secreted factors from the ES-derived cells, but in others, cell replacement is required. Thus, congenital or acquired disease can be pre-emptively averted in mice by developmental injection of ESCs.     

Pankreatitis und zystische Raumforderung des Pankreaskopfes

The intraluminal duodenal diverticulum is among the rarest congenital duodenal malformations. These sack-like structures in the middle section of the duodenum can cause symptoms ranging from upper abdominal pain to hemorrhaging. We report on the case of a 33-year-old male patient who presented in our clinic with symptoms of acute pancreatitis. The diagnosis is based on ERCP and endosonography. Important differential diagnoses are the choledochocele and duodenal duplications. Interventional endoscopy is now an established therapy option with few serious courses.     

Einfache und effektive Beurteilung der Anastomose nach radikaler retropubischer Prostatektomie

After radical prostatectomy, urinary extravasation at the anastomosis is common. Nevertheless, no data exist regarding the optimal time for catheter removal at the time of expected complete healing of the leakage. Therefore, over the last 10 years we have developed a standardized way to check the healing of the anastomosis. From 1999 to 2008, 1,479 radical prostatectomies were performed. Of those, 752 could be evaluated using the standardized method of checking the anastomosis for complete healing. All patients were postoperatively evalutated by cystogram. The date for checking the anastomosis/extravasation was determined by the color of the urine (cloudy, clear, or bloody). In the 752 evaluated patients (mean age 64 years), urinary extravasation was detected 2–8 days postoperatively in 41%, 9–12 days postoperatively in 16%, and in no patient 21 days postoperatively. The measured volume of urinary extravasation after 2–8 days postoperatively was 15 ml (3–49 ml) using cystogram evaluation. After 9–12 days, the volume was determined by cystogram to be 9 ml (3–24 ml). Macroscopic evaluation of the urinary color correlated very well with the likelihood of extravasation still being present. When the urine was cloudy or colored by old blood, extravasation was present in 86% of the patients (predictive value 0.99, specificity 97%). Microscopic evaluation of the urine on the same day showed that significant leukocyturia or hematuria correlated with persistent extravasation in 49% of the patients (sensitivity 98%, specificity 34%). The transurethral catheter remained in place for a mean of 7.9 days (4–31 days). After radical prostatectomy, the macroscopic color of the urine is evaluated as a single criterion for determining the time for assessing for possible persisting leakage of the anastomosis. Microscopic urine evaluation is less effective.     

Utility of the WHO‐five well‐being index as a screening tool for depression in Parkinson's disease

Beck depression inventory (BDI‐1A) is the gold standard screening tool for Parkinson's disease (PD) depression, but as a result of its complexity, it is of limited suitability as a quick and easy screening device. We, therefore, validate the 5‐item WHO‐Five Well‐being Index (WHO‐5) as a screening tool for PD depression. Two hundred thirteen of 215 recruited PD patients (99.1%) completed the WHO‐5. Receiver operating characteristic plots were used to calculate sensitivity/specificity for all cut‐off scores for the detection of depression and combined depression/dysthymia as assessed by an independent investigator using the Mini International Neuropsychiatric Interview (MINI). Internal consistency of the WHO‐5 was good (Cronbach's α = 0.83). WHO‐5 showed high validity with adequate detection of depression without differences in the validity indices compared to BDI‐1A (P = 0.234). The optimal cut‐off value for detection of depression was 12 of 13 points. WHO‐5 is a useful, brief, and easy instrument for identifying PD subjects with depression in daily practice. © 2010 Movement Disorder Society     

Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

Background  

Anophthalmia and microphthalmia are etiologically and clinically heterogeneous. Lenz microphthalmia is a syndromic form that is typically inherited in an X-linked pattern, though the causative gene mutation is unknown. Townes-Brocks syndrome manifests thumb anomalies, imperforate anus, and ear anomalies. We present a 13-year-old boy with a syndromic microphthalmia phenotype and a clinical diagnosis of Lenz microphthalmia syndrome.