Kagami‐Ogata syndrome: an important differential diagnosis to Beckwith‐Wiedemann syndrome

We report the case of a fetus with sonographic characteristics of Beckwith-Wiedemann syndrome (BWS). A 30-year-old gravida 2 para 1 was referred to our fetal medicine unit with an omphalocele. Fetal macrosomia, organomegaly, and polyhydramnios but no macroglossia were detected and BWS was suspected. Genetic testing for BWS did not confirm the suspected diagnosis as the karyotype was normal. Symptomatic polyhydramnios led to repeated amnioreductions. At 35 + 5 weeks of gestation, a female neonate of 3660 g was delivered with APGAR scores of 6/7/8, after 1/5/10 min, respectively. The abnormal shape of the thorax, facial dysmorphism, need for ventilation, and generalized muscular hypotonia led to the suspicion of Kagami-Ogata syndrome (KOS), which was confirmed by genetic testing. KOS in our patient was caused by a large deletion in the MEG3-region on chromosome 14q32 affecting the maternal allele. In this report, we highlight the notion that when sonographic signs suggestive of BWS such as macrosomia, polyhydramnios, and omphalocele are present and genetic testing does not confirm the suspected diagnosis, KOS should be tested for

Lifting the veil of secrecy: maternal and neonatal outcome of oocyte donation pregnancies in Germany

Background: In Germany, performing fertility procedures involving oocyte donation is illegal, as stated by the Embryo Protection Law. Nonetheless, in our clinical routine we attend to a steadily rising number of pregnant women, who have sought oocyte donation abroad. Due to the legal circumstances many women opt to keep the origin of their pregnancy a secret. However, studies have shown, that oocyte donation is an independent risk factor for the development of pregnancy complications, such as preeclampsia. Objective: The aim of this study is to evaluate maternal and neonatal outcomes of oocyte donation pregnancies in three large obstetric care units in Berlin, Germany. Methods: We retrospectively analyzed all available medical data on oocyte donation pregnancies at Charite University hospital, Vivantes Hospital Friedrichshain, and Neukoelln in the German capital. Results: We included 115 oocyte donation (OD) pregnancies in the present study. Our data are based on 62 singleton, 44 twin, 7 triplet, and 2 quadruplet oocyte donation pregnancies. According to our data, oocyte donation pregnancies are associated with a high risk of adverse maternal and fetal outcome, i.e., hypertension in pregnancy, preterm delivery, Cesarean section as mode of delivery, and increased peripartum hemorrhage. Conclusion: Although oocyte donation is prohibited by German law, many couples go abroad to seek reproductive measures using oocyte donation after former treatment options have failed. OD pregnancies are associated with a high risk of preeclampsia, C-section as mode of delivery, and peripartum hemorrhage. Detailed knowledge of the associated risks is of utmost importance to both the patient and the treating physician and midwife

Response to novel objects and foraging tasks by common marmoset (Callithrix Jacchus) female Pairs

Many studies have shown that environmental enrichment can significantly improve the psychological well-being of captive primates, increasing the occurrence of explorative behavior and thus reducing boredom. The response of primates to enrichment devices may be affected by many factors such as species, sex, age, personality and social context. Environmental enrichment is particularly important for social primates living in unnatural social groupings (i.e. same-sex pairs or singly housed animals), who have very few, or no, benefits from the presence of social companions in addition to all the problems related to captivity (e.g. increased inactivity). This study analyses the effects of enrichment devices (i.e. novel objects and foraging tasks) on the behavior of common marmoset (Callithrix jacchus) female pairs, a species that usually lives in family groups. It aims to determine which aspects of an enrichment device are more likely to elicit explorative behaviors, and how aggressive and stress-related behaviors are affected by its presence. Overall, the marmosets explored foraging tasks significantly longer than novel objects. The type of object, which varied in size, shape and aural responsiveness (i.e. they made a noise when the monkey touched them), did not affect the response of the monkeys, but they explored objects that were placed higher in the enclosure more than those placed lower down.Younger monkeys were more attracted to the enrichment devices than the older ones. Finally, stress-related behavior (i.e. scratching) significantly decreased when the monkeys were presented with the objects; aggressive behavior as unaffected. This study supports the importance of environmental enrichment for captive primates and shows that in marmosets its effectiveness strongly depends upon the height of the device in the enclosure and the presence of hidden food. The findings can be explained ifone considers the foraging behavior of wild common marmosets. Broader applications for the research findings are suggested in relation to enrichment

IL-6-mediated hepatocyte production is the primary source of plasma and urine neutrophil gelatinase associated lipocalin during acute kidney injury

Neutrophil gelatinase associated lipocalin (NGAL, Lcn2) is the most widely studied biomarker of acute kidney injury (AKI). Previous studies have demonstrated that NGAL is produced by the kidney and released into the urine and plasma. Consequently, NGAL is currently considered a tubule specific injury marker of AKI. However, the utility of NGAL to predict AKI has been variable suggesting that other mechanisms of production are present. IL-6 is a proinflammatory cytokine increased in plasma by two hours of AKI and mediates distant organ effects. Herein, we investigated the role of IL-6 in renal and extra-renal NGAL production. Wild type mice with ischemic AKI had increased plasma IL-6, increased hepatic NGAL mRNA, increased plasma NGAL, and increased urine NGAL; all reduced in IL-6 knockout mice. Intravenous IL-6 in normal mice increased hepatic NGAL mRNA, plasma NGAL and urine NGAL. In mice with hepatocyte specific NGAL deletion (Lcn2hep-/-) and ischemic AKI, hepatic NGAL mRNA was absent, and plasma and urine NGAL were reduced. Since urine NGAL levels appear to be dependent on plasma levels, the renal handling of circulating NGAL was examined using recombinant human NGAL. After intravenous recombinant human NGAL administration to mice, human NGAL in mouse urine was detected by ELISA during proximal tubular dysfunction, but not in pre-renal azotemia. Thus, during AKI, IL-6 mediates hepatic NGAL production, hepatocytes are the primary source of plasma and urine NGAL, and plasma NGAL appears in the urine during proximal tubule dysfunction. Hence, our data change the paradigm by which NGAL should be interpreted as a biomarker of AKI

High Level of Gastrointestinal Nosocomial Infections in the German Surveillance System, 2002–2008

Objective: Surveillance of nosocomial infections (NIs) is well established in many countries but often does not include gastrointestinal infections. We sought to determine the proportion of NIs among all hospitalized cases for the 4 most prevalent types of gastrointestinal infections in Germany. Methods: We analyzed all notifications of laboratory-confirmed or epidemiologically linked gastrointestinal infections due to norovirus, rotavirus, Salmonella species, and Campylobacter species reported to the Robert Koch Institute in Berlin, Germany, from 2002 through 2008. Infections were considered nosocomial if disease onset was more than 2 days after hospitalization for norovirus, rotavirus, and Salmonella infection and more than 5 days after hospitalization for Campylobacter infection. Results: During the study period, 710,725 norovirus, 394,500 rotavirus, 395,736 Salmonella, and 405,234 Campylobacter gastrointestinal infections were reported. Excluding cases for which nosocomial status could not be determined, we identified 39,424 (49%) of 80,650 norovirus, 11,592 (14%) of 83,451 rotavirus, 3,432 (8%) of 43,348 Salmonella, and 645 (2%) of 33,503 Campylobacter gastrointestinal infections as definite nosocomial cases. Multivariate analysis confirmed higher risk of gastrointestinal NIs for patients aged more than 70 years (relative risk [RR], 7.0 [95% confidence interval {CI}, 6.7-7.2]; [Formula: see text]) and residents of western states (RR, 1.3 [95% CI, 1.2-1.3]; [Formula: see text]) and lower risk for female patients (RR, 0.9 [95% CI, 0.9-0.9; [Formula: see text]). Yearly NI proportions remained stable except for norovirus. Conclusions: The investigated gastrointestinal NIs in Germany do not show a clear trend, but they are at high level, revealing potential for public health action and improvement of hospital infection control mainly among older patients. National prevalence studies on gastrointestinal NIs would be of additional value to give more insight on how and where to improve hospital infection control

Effects of syntax in human sentence parsing: Evidence against a structure-based proposal mechanism

No description supplie

Years of potential life lost for six major enteric pathogens, Germany, 2004–2008

In industrialized countries, acute infectious enteric diseases are usually mild, but they can also cause death. They do so, however, at different ages. Using 2004–2008 German notification data, we computed and compared crude and premature mortality [three different measures of years of potential life lost (YPLL)] of illnesses caused by Campylobacter spp., Listeria monocytogenes, norovirus, rotavirus, non-typhoidal Salmonella spp., and Shiga toxin-producing E. coli (STEC). Among ∼1·5 million notified illnesses, those caused by norovirus were the most frequent. The highest annual mortality was registered for salmonellosis (0·55/1 000 000 population), but listeriosis accounted for the highest number of YPLL (n=4245). Disregarding death at advanced age (i.e. >70 years), STEC illness (n=757) and rotavirus gastroenteritis (n=648) ranked second and third, following listeriosis (n=2306). Routine surveillance captures only a fraction of all incident cases and deaths, under-ascertaining the true burden of disease. Weighting death by age permits a different view on the disease burden individual enteric pathogens cause and particularly underscores the public health importance of listeriosis prevention