Prenatal diagnosis of 21-hydroxylase deficiency by rflp analysis of the 21-hydroxylase,complement C4, and HLA class II genes

In 19 pregnancies at risk for 21-hydroxylase deficiency (21OHD) in 18 families with at lea one affected child, prenatal diagnosis was performed by RFLP analysis using the enzymi Taq I and EcoRI and the DNA probes specific for the 21 OH genes, the closely linke complement C4 genes and the highly polymorphic HLA class II genes DRB, DQB, and DPI For fetal DNA analysis either chorionic villi or cultivated amniotic cells were used. In all 1 cases, a clear prenatal diagnosis was possible either with the 21OH probe alone or in mo cases, by combining the results of the different closely linked loci.     

Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41)

Many authors have suggested that individuals affected by a terminal 1q deletion display a phenotypically definable and recognizable syndrome. In all of the 27 cases reported to date, the breakpoints were at band q42 or distally to it. To our knowledge, we report the first case of a terminal 1q41 deletion. Diagnosis was made prenatally by amniocentesis, following ultrasonographic diagnosis of omphalocele, cerebral ventriculomegaly, and increased nuchal fold thickness in a 19-week female fetus. Multiple facial and extremity features were consistent with the proposed distal 1q deletion syndrome; omphalocele, however, has not been reported previously. The absence of liver herniation into the omphalocele sac in this case supports the previously reported association of this finding with chromosomal anomalies.     

The impact of the BP Baker report

Introduction

This study examined the impact of the British Petroleum (BP) Baker Panel Report, reviewing the March 2005 BP-Texas City explosion, on the field of process safety.

Method

Three hundred eighty-four subscribers of a process safety listserv responded to a survey two years after the BP Baker Report was published.

Results

Results revealed respondents in the field of process safety are familiar with the BP Baker Report, feel it is important to the future safety of chemical processing, and believe that the findings are generalizable to other plants beyond BP-Texas City. Respondents indicated that few organizations have administered the publicly available BP Process Safety Culture Survey. Our results also showed that perceptions of contractors varied depending on whether respondents were part of processing organizations (internal perspective) or government or consulting agencies (external perspective).

Conclusions

This research provides some insight into the beliefs of chemical processing personnel regarding the transportability and generalizability of lessons learned from one organization to another.

Impact on Industry

This study has implications for both organizational scientists and engineers in that it reveals perceptions about the primary mechanism used to share lessons learned within one industry about one major catastrophe (i.e., investigation reports). This study provides preliminary information about the perceived impact of a report such as this one.     

Implementing falls prevention research into policy and practice in Australia: past, present and future

Introduction

Falls in older Australians are a significant public health issue with one in three older people falling one or more times each year.

Method

Many fall prevention randomized controlled trials have been conducted in Australia as well as across the world.

Results

The findings of these studies now constitute a substantial evidence base that can provide direction for health and lifestyle interventions for preventing falls in older people. This research evidence has contributed to health policy in Australia to some extent, but is yet to be widely implemented into practice. This opinion piece overviews previous policy initiatives and describes a new Partnership research program funded by the Australian National Health and Medical Research Council (NHMRC), which seeks to further influence health policy and address the ongoing research-practice gap.     

Prenatal DNA Sequencing: Clinical,Counseling, and Diagnostic Laboratory Considerations

Clinical diagnostic laboratories are producing next-generation sequencing-based test results that are becoming increasingly incorporated into patient care. Whole genome and exome sequencing on fetal material derived from amniocytes, chorionic villi, or products of conception is starting to be offered clinically in specialized centers, but it has not yet become routine practice. The technical, interpretation, and ethical challenges are greatest in the area of prenatal medicine because the fetus has a limited health history, and the physical examination is only indirectly available via prenatal sonography. Here, we provide an overview of these challenges and highlight the clinical utility, reporting, and counseling issues associated with prenatal DNA sequencing. Future considerations are also discussed. © 2017 John Wiley & Sons, Ltd.     

Synthesis of zinc-carboxylate metal-organic frameworks for the removal of emerging drug contaminant (amodiaquine) from aqueous solution

We herein report the removal of amodiaquine, an emerging drug contaminant from aqueous solution using [Zn2(fum)2(bpy)] and [Zn4 O(bdc)3](fum = fumaric acid; bpy =4,4-bipyridine; bdc = benzene-1,4-dicarboxylate) metal–organic frameworks(MOFs) as adsorbents. The adsorbents were characterized by elemental analysis, Fourier transform infrared(FT-IR) spectroscopy, and powder X-ray diffraction(PXRD). Adsorption process for both adsorbents were found to follow the pseudo-first-order kinetics, and the adsorption equilibrium data fitted best into the Freundlich isotherm with the R~2 values of 0.973 and0.993 obtained for [Zn_2(fum)_2(bpy)] and [Zn_4 O(bdc)_3] respectively. The maximum adsorption capacities foramodiaquine in this study were found to be 0.478 and 47.62 mg/g on the[Zn_2(fum)_2(bpy)] and [Zn_4 O(bdc)_3] MOFs respectively, and were obtained at p H of 4.3 for both adsorbents. FT-IR spectroscopy analysis of the MOFs after the adsorption process showed the presence of the drug. The results of the study showed that the prepared MOFs could be used for the removal of amodiaquine from wastewater.     

Prenatal diagnosis of gastrointestinal obstruction: A correlation between prenatal ultrasonic findings and postnatal operative findings

The impact of prenatal sonographic diagnosis of oesophageal and gastrointestinal obstructions has been analysed over a 10-year period. Three groups of patients were evaluated. The first group consisted of 46 newborns with abnormal prenatal sonogratns, 41 of which were confirmed to have intestinal obstruction postnatally. The second group consisted of 17 neonates with normal prenatal sonograms who had intestinal obstruction postnatally. The third group included 56 newborns who did not undergo a prenatal sonogram but who had intestinal obstruction confirmed at surgery. Polyhydramnios without the appearance of a stomach on ultrasound was diagnostic of pure oesophageal atresia. Polyhydramnios with intestinal dilation was diagnostic of intestinal obstruction. Although surgery was performed earlier in the infants diagnosed prenatally with ultrasound, mortality was no less than in the group that did not undergo a prenatal sonogram, probably because of the high incidence of associated anomalies.     

Women's opinions on the offer and use of maternal serum screening

We studied the opinions and experiences concerning maternal serum screening of two groups of women: (A) women who were not eligible for prenatal diagnosis; and (B) women for whom prenatal diagnosis was available because of advanced maternal age, and who either underwent chorionic villus sampling or amniocentesis. Many of the women were in favour of the availability of serum screening and would apply for this test in a future pregnancy. This applied also to many respondents who had previously undergone prenatal diagnosis. Most of these women, however, did not intend to decline diagnostic amniocentesis if the screening results did not indicate an increased risk. The majority of the group of respondents of 36 years and over did not consider it acceptable if age indication was dropped altogether. A system based on serum screening will have other implications than a policy based on age indication, since specific individual risk assessment is perceived as being of more significance than a risk statistically derived from age alone. Serum screening is often seen as a means of reassurance and many women are not aware of the possible drawbacks. As technology becomes increasingly complicated, counselling has to be adjusted correspondingly. Further research is needed to establish whether and how distress can be minimized and well-considered individual choice can be achieved.     

Remote monitoring of vibrational information in spider webs

Spiders are fascinating model species to study information-acquisition strategies, with the web acting as an extension of the animal’s body. Here, we compare the strategies of two orb-weaving spiders that acquire information through vibrations transmitted and filtered in the web. Whereas Araneus diadematus monitors web vibration directly on the web, Zygiella x-notata uses a signal thread to remotely monitor web vibration from a retreat, which gives added protection. We assess the implications of these two information-acquisition strategies on the quality of vibration information transfer, using laser Doppler vibrometry to measure vibrations of real webs and finite element analysis in computer models of webs. We observed that the signal thread imposed no biologically relevant time penalty for vibration propagation. However, loss of energy (attenuation) was a cost associated with remote monitoring via a signal thread. The findings have implications for the biological use of vibrations by spiders, including the mechanisms to locate and discriminate between vibration sources. We show that orb-weaver spiders are fascinating examples of organisms that modify their physical environment to shape their information-acquisition strategy.