An unusual presentation of osteogenesis imperfecta type I

Marta Rebelo, Jandira Lima, José Diniz Vieira, José Nascimento CostaDepartment of Internal Medicine, University Hospital of Coimbra, Coimbra, PortugalAbstract: Osteogenesis imperfecta (OI) is a rare inherited disorder with a broad spectrum of clinical and genetic variability. The genetic diversity involves, in the majority of the cases, mutations in one of the genes that encodes the type 1 collagen protein (COL1 A1 and COL1 A2), but it is not a requirement for the diagnosis. The most benign form is OI type I. The authors present a case report of a 25-year-old woman who had severe low back pain associated with incapacity to walk and breast-feed post-partum. Symptoms developed 2 weeks after delivery. The radiological examination revealed severe osteoporosis with no abnormalities in the laboratory findings. The clinical signs and a positive personal and family history of multiple fractures in childhood suggested OI type I, although other diagnosis, such as pregnancy-associated osteoporosis, was also considered. The atypical presentation of this rare disorder in adulthood calls attention to the need for early diagnosis for prompt treatment. Treatment of OI is never curative, but it improves the quality of the patient’s life.Keywords: osteogenesis imperfecta, collagen, pregnancy, osteoporosi

On the nature of the high-energy rollover in 1H 0419-577

A NuSTAR/Swift observation of the luminous Seyfert 1 galaxy 1H 0419-577 taken during 2015 reveals one of the most extreme high-energy cut-offs observed to date from an AGN – an origin due to thermal Comptonization would imply a remarkably low coronal temperature kT ∼ 15 keV. The low-energy peak of the spectrum in the hard X-ray NuSTAR band, which peaks before the expected onset of a Compton hump, rules out strong reflection as the origin of the hard excess in this AGN. We show the origin of the high-energy rollover is likely due to a combination of both thermal Comptonization and an intrinsically steeper continuum, which is modified by absorption at lower energies. Furthermore, modelling the broad-band XUV continuum shape as a colour-corrected accretion disc, requires the presence of a variable warm absorber to explain all flux and spectral states of the source, consistent with the previous work on this AGN. While absorber variations produce marked spectral variability in this AGN, consideration of all flux states allows us to isolate a colourless component of variability that may arise from changes in the inner accretion flow, typically at around 10 rg

Improved methods for high-precision Pb-Pb dating of extra-terrestrial materials

Dating meteoritic materials by the Pb–Pb isochron method depends on constructing linear arrays typically defined by mixtures of initial and radiogenic Pb after the removal of terrestrial contaminant Pb. The method also depends on minimizing the amount of laboratory Pb blank added to the sample during processing and analyses. With the aim to analyze smaller sample sizes and decrease processing times, we have devised a new method for the construction of isochrons using the stepwise dissolution of meteoritic materials that better defines reduced amounts of Pb blank, reduces the risk of random anomalous Pb contamination, and increases sample throughput. Samples are processed in a PFA Teflon™ pipette tip fitted with a frit inside a heated, sealed chamber that can be manually over-pressured to expel reagents directly into a PFA Teflon™ vial below. With four independent chambers, three samples can be processed simultaneously with a fourth position to assess the Pb contribution of the combined blank and spike for each step. The matched blank-spike Pb for each step provides a specific blank estimate for each step that ensures a more accurate correction for non-sample Pb and, therefore, reduces the uncertainty on each analysis. We assess the performance of this new method by reporting the results of dating a fragment of a chondrule from the well-characterized CBa chondrite Gujba and compare these results with previously published data for this meteorite. The improvements reduce the minimum sample sizes that can be successfully dated by the Pb–Pb method, an important development for size-limited materials such as small chondrules and samples returned from space missions

A New Relativistic Component of the Accretion Disk Wind in PDS 456

Past X-ray observations of the nearby luminous quasar PDS 456 (at z = 0.184) have revealed a wide angle accretion disk wind, with an outflow velocity of ∼−0.25 c . Here, we unveil a new, relativistic component of the wind through hard X-ray observations with NuSTAR and XMM-Newton , obtained in 2017 March when the quasar was in a low-flux state. This very fast wind component, with an outflow velocity of −0.46 ± 0.02 c , is detected in the iron K band, in addition to the −0.25 c wind zone. The relativistic component may arise from the innermost disk wind, launched from close to the black hole at a radius of ∼10 gravitational radii. The opacity of the fast wind also increases during a possible obscuration event lasting for 50 ks. We suggest that the very fast wind may only be apparent during the lowest X-ray flux states of PDS 456, becoming overly ionized as the luminosity increases. Overall, the total wind power may even approach the Eddington value

Femtosecond laser and microkeratome-assisted Descemet stripping endothelial keratoplasty: first clinical results

Purpose: To evaluate the use of a femtosecond laser combined with a microkeratome in the preparation of posterior corneal disks for Descemet stripping automated endothelial keratoplasty (DSAEK).
Methods: This experimental study involved ultrathin DSAEK tissue preparation of 22 donor corneas unsuitable for transplantation. The first cut was performed with an Intralase® FS60 laser and the second cut with a Moria CBm 300-µm microkeratome. The thickness of the first cut was modified for each cornea to obtain a final graft thickness of less than 110 µm. Precut and postcut central pachymetry were performed with an ultrasonic pachymeter. Central endothelial cell density (ECD) was calculated before and 24 hours after tissue preparation. 
Results: Final graft thickness was 105.0 ± 26.1 (SD) µm (range 65-117). The mean microkeratome head cut thickness was 324.5 ± 10.9 µm (range 310-345). Precut and postcut ECDs averaged 2250 ± 222 and 2093 ± 286 cells/mm2, respectively, representing 6.9% of cell loss. No corneas were perforated.
Conclusion: Femtosecond FS60 lasers and Moria CBm 300-µm microkeratomes can be used sequentially to prepare consistently thin DSAEK grafts with no irregular cuts or cornea perforations

Wake-up Stroke and Stroke within the Therapeutic Window for Thrombolysis Have Similar Clinical Severity, Imaging Characteristics, and Outcome

BACKGROUND: Wake-up stroke (WUS) represents 25% of all ischemic strokes. There is conflicting evidence concerning clinical severity, imaging characteristics, and outcome when WUS is compared with stroke of known time of onset. Our aim was to compare WUS patients with patients with ischemic stroke within the therapeutic window (STW) for thrombolysis. METHODS: This is a retrospective hospital-based study of all consecutive patients hospitalized for acute ischemic stroke during 2013. Patients with STW, WUS, and WUS with computed tomography (CT)  at 3 hours or less after awakening (WUS≤3h) were selected for the study. The methods used include a review of clinical records, an independent quantification of early signs of ischemia on admission CT scan, and determination of functional outcome on follow-up. RESULTS: Of 554 patients evaluated, 190 had STW, 113 had WUS (20.4%), and 25 had WUS≤3h. Among all WUS patients, 33.6% did not have any other formal contraindication for thrombolysis besides undetermined time of onset. WUS patients had demographic characteristics, vascular risk factors, and clinical severity similar to STW patients. Mild or absent early signs of ischemia on admission CT in WUS≤3h patients were similar to those in STW patients when adjusted for clinical severity (odds ratio [OR] = .50, 95% confidence interval [CI]=.17-1.47). Favorable prognosis in WUS≤3h was similar to STW when adjusted for age, clinical severity, and thrombolysis (OR = .53, 95% CI=.09-3.14). CONCLUSIONS: This study strengthens the evidence that clinical and early imaging characteristics of WUS patients are similar to those of patients with stroke who are eligible for thrombolysis based on the time window criteria, and patients with WUS do not have a worse short outcome

Cryoelectron-microscopy structure of the enteropathogenic Escherichia coli type III secretion system EspA filament.

Enteropathogenic Escherichia coli (EPEC) and enterohemorrhagic Escherichia coli (EHEC) utilize a macromolecular type III secretion system (T3SS) to inject effector proteins into eukaryotic cells. This apparatus spans the inner and outer bacterial membranes and includes a helical needle protruding into the extracellular space. Thus far observed only in EPEC and EHEC and not found in other pathogenic Gram-negative bacteria that have a T3SS is an additional helical filament made by the EspA protein that forms a long extension to the needle, mediating both attachment to eukaryotic cells and transport of effector proteins through the intestinal mucus layer. Here, we present the structure of the EspA filament from EPEC at 3.4 Å resolution. The structure reveals that the EspA filament is a right-handed 1-start helical assembly with a conserved lumen architecture with respect to the needle to ensure the seamless transport of unfolded cargos en route to the target cell. This functional conservation is despite the fact that there is little apparent overall conservation at the level of sequence or structure with the needle. We also unveil the molecular details of the immunodominant EspA epitope that can now be exploited for the rational design of epitope display systems

Evidence for a radiatively driven disc-wind in PDS 456?

We present a newly discovered correlation between the wind outflow velocity and the X-ray luminosity in the luminous ($L_{\rm bol}\sim10^{47}\,\rm erg\,s^{-1}$) nearby ($z=0.184$) quasar PDS\,456. All the contemporary XMM-Newton, NuSTAR and Suzaku observations from 2001--2014 were revisited and we find that the centroid energy of the blueshifted Fe\,K absorption profile increases with luminosity. This translates into a correlation between the wind outflow velocity and the hard X-ray luminosity (between 7--30\,keV) where we find that $v_{\rm w}/c \propto L_{7-30}^{\gamma}$ where $\gamma=0.22\pm0.04$. We also show that this is consistent with a wind that is predominately radiatively driven, possibly resulting from the high Eddington ratio of PDS\,456

A rare case of term viable secondary abdominal pregnancy following rupture of a rudimentary horn: a case report

<p>Abstract</p> <p>Introduction</p> <p>Abdominal pregnancy is a rare event, but one that represents a grave risk to the health of the pregnant woman. An abdominal pregnancy is defined as an ectopic pregnancy that implants in the peritoneal cavity. Early abdominal pregnancy is self-limited by hemorrhage from trophoblastic invasion with complete abortion of the gestational sac that leaves a discrete crater. Advanced abdominal pregnancy is a rare event, with high fetal and maternal morbidity and mortality.</p> <p>Case presentation</p> <p>This is a case report of a 22-year-old primigravida with an abdominal pregnancy from a ruptured rudimentary horn. She was diagnosed as a case of term pregnancy with placenta previa with a transverse fetal lie and cervical fibroid and was prepared for an elective cesarean section. Intra-operatively, a live term female baby was extracted from the peritoneal cavity and it turned out to be an abdominal pregnancy from a ruptured rudimentary horn of a unicornuate uterus, which is a very rare condition. Mother and baby were in good condition after such a catastrophic event.</p> <p>Conclusion</p> <p>This case illustrates a rare obstetric condition which can be a severe catastrophic condition leading to maternal mortality and morbidity. It is imperative for every obstetrician to have in mind the possibility of abdominal pregnancy, although rare, especially in pregnant patients with persistent abdominal pain and painful fetal movements.</p

Impact of antenna correlation on the performance of partial relay selection

Antenna correlation is generally viewed as an obstacle to realize the desired performance of a wireless system. In this article, we investigate the performance of partial relay selection in the presence of antenna correlation. We consider both channel state information (csi)-assisted and fixed gain amplify-and-forward (AF) relay schemes. The source and the destination are equipped with multiple antennas communicating via the best first hop signal-to-noise ratio (SNR) relay. We derived the closed form expression for outage probability, average symbol error rate (SER) for both schemes. Further, an exact expression is derived for the ergodic capacity in the csi-assisted relay case and an approximated expression is considered for the fixed gain case. Moreover, we provide simple asymptotic results and show that the diversity order of the system remains unchanged with the effect of antenna correlation for both types of relay schemes