Meckel-Gruber syndrome: Prenatal diagnosis at 10 menstrual weeks using embryoscopy

A case of Meckel—Gruber syndrome was diagnosed by embryoscopy at 10 menstrual weeks, allowing for early termination of pregnancy. Post-mortem examination confirmed the presence of polydactyly and bilateral cystic lesions of the mesonephros and metanephros. Both the forming nephrons and the collecting ducts were involved in the formation of renal cysts.     

Injury Severity Score alone predicts mortality when compared to EMS scene time and transport time for motor vehicle trauma patients who arrive alive to hospital

ABSTRACT

Objective: This study aims to identify the association, if any, between prehospital scene time, prehospital transport time, and Injury Severity Score (ISS) with in-hospital mortality.

Methods: A retrospective analysis was performed on patients at least 18 years of age who arrived to the hospital alive via emergency medical services (EMS) after a motor vehicle collision (MVC) between 1992 and 2016. These patients were divided into groups based on minutes spent at the scene and in transport. The ISS of the in-hospital mortalities, as well as the entire patient sample for each time frame, was collected. Patients without documented scene time, transport time, or ISS were excluded.

Results: Four thousand one hundred ninety-four patients were captured when analyzing scene time, though only 3,980 met inclusion criteria. In addition, 4,177 patients were captured when analyzing transport time, though only 3,979 met inclusion criteria. Scene time and transport time were not statistically significant predictors of in-hospital mortality (P = .31 and P = .458, respectively). ISS was found to be a statistically significant predictor of in-hospital mortality (P < .001).

Conclusions: ISS predicts mortality independent of scene time or transport time for patients who arrive to the hospital alive following an MVC at Guthrie Robert Packer Hospital. Limitations of our study include inability to capture prehospital deaths and inability to correlate ISS with prehospital injury severity scores.     

Comparative degradation rates of chitinous exoskeletons from deep-sea environments

Hydrothermal vent environments, particularly those associated with the vestimentiferan Riftia pachyptila, are believed to be among the highest chitin-producing systems. In order to elucidate the chitin cycle in these environments, we estimate the in situ chitin degradation rates of tube-worm exoskeletons. Our in situ experiments show that the tubes of Riftia are highly stable structures. Comparative measurements of the degradation rates of Riftia tubes and crab shells immersed at deep-sea vents show that the tubes would be degraded within 2.5 years, whereas the time for the total degradation of the vent crab (Bythograea thermydron) carapaces would not exceed 36 days. The importance of the microbial participation in this degradation was estimated for Riftia tubes. Based on previous work, we calculated chitin production by a population of Riftia tubes of about 750 g m^-2 year^-1 (763). From our in situ experiments, we estimated a microbial chitinolysis rate of about 500 g m^-2 year^-1 (496) (65% of the chitin produced).Exoskeletons containing β-chitin appear more stable in natural environments than those containing α-chitin and would thus be less available as carbon and nitrogen sources. In contrast, isolated β-chitin was hydrolysed faster than α-chitin during in vitro degradation experiments; for instance, Riftia β-chitin was degraded about 3- to 4-fold faster than Bythograea α-chitin. A stabilization process by disulfide bonds of the proteins-chitin link, rather than the crystalline form of the chitin (α/β), accounts for the resistance of Riftia tubes to enzymatic attacks.     

Two unusual chromosome aberrations ascertained by sonographic anomalies

We describe two cases of sonographic abnormalities associated with unusual chromosomal aberrations. Case 1 presented with a cystic hygroma at 12 weeks' gestation. Cytogenetic analysis revealed an unbalanced complex chromosome rearrangement implicating chromosomes 6, 13 and 21 (karyotype: 47,XX,t(6;21;14)(q14;q21;q21)mat,+21) and corresponding to a complete trisomy 21. This anomaly resulted from malsegregation of a maternal balanced three-way translocation. For case 2, an alobar holoprosencephaly was identified by ultrasonography at 23 weeks' gestation. Chromosomal analysis showed a recombinant rec (13), dup q chromosome, secondary to unequal crossing-over of a paternal pericentric inversion of chromosome 13, giving rise to partial trisomy 13q (karyotype: 46,XX,rec(13)dup(13q)inv(13)(p11q21)pat). These two cases illustrate the role of ultrasound in leading to detection not only of foetal chromosomal aberrations but also of rare balanced chromosomal rearrangements presented by one of the two parents. Copyright © 2004 John Wiley & Sons, Ltd.     

Pathways of Mycobacterium ulcerans infection: a review

Buruli ulcer (BU), an often-deforming skin ulceration caused by Mycobacterium ulcerans (MU), is now considered by the World Health Organization to be the third most common mycobacterium infection. However, the reservoir of MU in the environment and the epidemiology of BU are poorly understood. The disease is prevalent in riverine, slow-flowing and swampy areas of several tropical and subtropical regions of the world, especially in West Africa where the disease is rapidly increasing in incidence. This paper presents a review of published literature concerning epidemiology of, transmission and susceptibility to MU infection. It considers several endemic natural environments and their influence on infection.