bluuebunny/crossref_metadata_2025_split huggingface dataset:
Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report
Authors: Picher-Martel Vincent , Labrie Yvan , Rivest Serge , Lace Baiba , Chrestian Nicolas 
Published: February 2020

Abstract
Background
Primary microcephaly is defined as reduced occipital-frontal circumference noticeable before 36 weeks of gestation. Large amount of insults might lead to microcephaly including infections, hypoxia and genetic mutations. More than 16 genes are described in autosomal recessive primary microcephaly. However, the cause of microcephaly remains unclear in many cases after extensive investigations and genetic screening.

Case presentation
Here, we described the case of a boy with primary microcephaly who presented to a neurology clinic with short stature, global development delay, dyskinetic movement, strabismus and dysmorphic features. We performed microcephaly investigations and genetic panels. Then, we performed whole-exome sequencing to identify any genetic cause. Microcephaly investigations and genetic panels were negative, but we found a new D317V homozygous mutation in TELOE-2 interacting protein 2 (TTI2) gene by whole-exome sequencing. TTI2 is implicated in DNA damage response and mutation in that gene was previously described in mental retardation, autosomal recessive 39.

Conclusions
We described the first French Canadian case with primary microcephaly and global developmental delay secondary to a new D317V homozygous mutation in TTI2 gene. Our report also highlights the importance of TTI2 protein in brain development.
Impact of double J stenting or nephrostomy placement during transurethral resection of bladder tumour on the incidence of metachronous upper urinary tract urothelial cancer
Authors: Hupe Marie C. , Dormayer Lukas , Ozimek Tomasz , Struck Julian P. , Hennig Martin J. P. , Klee Melanie , von Klot Christoph A. J. , Kuczyk Markus A. , Merseburger Axel S. , Kramer Mario W. 
Published: February 2020

Abstract
Background
Whether or not double J (DJ) stenting during transurethral resection of a bladder tumour (TURBT) harms patients with regard to possible metachronous upper urinary tract urothelial cancer (UUTUC) development remains controversial. This study evaluated the impact of DJ compared to nephrostomy placement during TURBT for bladder cancer (BCa) on the incidence of metachronous UUTUCs.

Methods
We retrospectively analysed 637 patients who underwent TURBT in our department between 2008 and 2016. BCa, UUTUC and urinary drainage data (retrograde/anterograde DJ and percutaneous nephrostomy) were assessed, along with the prevalence of hydronephrosis, and mortality. Chi-square and Fisher’s exact test was performed for univariate analyses. Survival analysis was performed by the Kaplan-Meier method and log-rank tests.

Results
UUTUC was noted in 28 out of 637 patients (4.4%), whereas only eight (1.3%) developed it metachronously to BCa. Out of these, four patients received DJ stents, while four patients received no urinary drainage of the upper urinary tract. Placement of urinary drainage significantly correlated with UUTUC (50.0% vs. 17.9%; p = 0.041). DJ stenting significantly correlated with UUTUC (50.0% vs. 11%; p <  0.01), while no patient with a nephrostomy tube developed UUTUC. UUTUC-free survival rates were significantly lower for patients with DJ stents than for all other patients (p = 0.001). Patients with or without DJ stents had similar overall survival (OS) rates (p = 0.73), whereas patients with nephrostomy tubes had significantly lower OS rates than all other patients (p <  0.001).

Conclusions
Patients with DJ stenting during TURBT for BCa might have an increased risk of developing metachronous UUTUC. This study indicated advantages in placing nephrostomy tubes rather than DJ stents; however, confirmation requires investigation of a larger cohort. Even so, the increased mortality rate in the nephrostomy group reflected hydronephrosis as an unfavourable prognostic factor.
Effects of β1-adrenergic receptor blockade on the cerebral microcirculation in the normal state and during global brain ischemia/reperfusion injury in rabbits
Authors: Asano Nobumasa , Hishiyama Sohei , Ishiyama Tadahiko , Kotoda Masakazu , Matsukawa Takashi 
Published: February 2020

Abstract
Background
Although recent studies using experimental models of ischemic brain injury indicate that systemically-administered β1-blockers have potential protective effects on the cerebrovascular system, the precise mechanisms remain unclear. In addition to their cardiovascular effects, water-soluble β1-blockers can pass the blood–brain barrier and may exert their vascular action on cerebral microvessels. The aim of this study was to investigate the direct effects of β1-blockade on the cerebral microvasculature both in the normal state and ischemia/reperfusion state using the cranial window method.

Methods
The closed cranial window method was used to visualize the cerebral microcirculation and changes in the pial arteriole diameter in adult male rabbits. In the first experiment, various concentrations of the selective β1-blocker landiolol were administered into the cranial window to evaluate the dose-response. In the second experiment, the effect of β1-blockade on the brain during ischemic/reperfusion injury was investigated. Global brain ischemia/reperfusion was induced by clamping the brachiocephalic, left common carotid, and left subclavian arteries for 15 min. Either landiolol or artificial cerebrospinal fluid was infused 5 min after initiation of ischemia through 120 min after reperfusion. Pial arteriole diameter and hemodynamic and physiological parameters were recorded before ischemia, during ischemia, and 5, 10, 20, 40, 60, 80, 100, and 120 min after reperfusion.

Results
In the first experiment, topical administration of landiolol at higher concentrations produced slight pial arteriole dilation (10− 8 mol/L: 4.3 ± 3.4%, 10− 6 mol/L: 8.0 ± 5.8%, 10− 4 mol/L: 7.3 ± 4.0%). In the second experiment, the topical administration of landiolol significantly dilated the pial arteriole diameters during ischemia/reperfusion injury (ischemia: 30.6 ± 38.6%, 5 min: 47.3 ± 42.2%, 10 min: 47.8 ± 34.2%, 20 min: 38.0 ± 39.0%). There were no statistical differences in hemodynamic and physiological parameters between the landiolol and control groups.

Conclusions
The blockade of β1-adrenergic receptors induced significant vasodilation of pial arterioles during ischemia/reperfusion injury. By contrast, only a slight dilation of the arterioles was observed in the normal state, indicating that ischemic cerebral microvessels are more susceptible to the vasodilatory effect induced by selective blockade of β1-adrenergic receptors than normal microvessels.
Real-time effects of PEEP and tidal volume on regional ventilation and perfusion in experimental lung injury
Authors: Borges João Batista , Cronin John N. , Crockett Douglas C. , Hedenstierna Göran , Larsson Anders , Formenti Federico 
Published: February 2020

AbstractBackgroundReal-time bedside information on regional ventilation and perfusion during mechanical ventilation (MV) may help to elucidate the physiological and pathophysiological effects of MV settings in healthy and injured lungs. We aimed to study the effects of positive end-expiratory pressure (PEEP) and tidal volume (VT) on the distributions of regional ventilation and perfusion by electrical impedance tomography (EIT) in healthy and injured lungs.MethodsOne-hit acute lung injury model was established in 6 piglets by repeated lung lavages (injuredgroup). Four ventilated piglets served as thecontrolgroup. A randomized sequence of any possible combination of threeVT(7, 10, and 15 ml/kg) and four levels of PEEP (5, 8, 10, and 12 cmH2O) was performed in all animals. Ventilation and perfusion distributions were computed by EIT within three regions-of-interest (ROIs): nondependent, middle, dependent. A mixed design with one between-subjects factor (group:interventionorcontrol), and two within-subjects factors (PEEP andVT) was used, with a three-way mixed analysis of variance (ANOVA).ResultsTwo-way interactions between PEEP and group, andVTand group, were observed for the dependent ROI (p= 0.035 and 0.012, respectively), indicating that the increase in the dependent ROI ventilation was greater at higher PEEP and VTin the injured group than in the control group. A two-way interaction between PEEP andVTwas observed for perfusion distribution in each ROI: nondependent (p= 0.030), middle (p= 0.006), and dependent (p= 0.001); no interaction was observed between injured and control groups.ConclusionsLarge PEEP andVTlevels were associated with greater pulmonary ventilation of the dependent lung region in experimental lung injury, whereas they affected pulmonary perfusion of all lung regions both in the control and in the experimental lung injury groups.
Smoking prevalence in the area of responsibility of the German Ministry of Defense — results of the employee survey in the context of occupational health management
Authors: Sammito Stefan , Claus Annika , Rose Dirk-Matthias 
Published: February 2020

Abstract
Background
Tobacco use, correlated with reduced physical fitness, is one of the leading causes of avoidable death worldwide. It increases the risk of dementia and can shorten the lifespan by 10 years. For the German Armed Forces (Bundeswehr), figures on smoking behavior have not been comprehensively captured. This study analyzes current data in a large sample from this population.

Methods
Based on an employee survey as part of the Occupational Health Management System, data on smoking behavior from 13,326 participants were analyzed in relation to age, gender, professional status, education level and membership in military operational units versus other agencies.

Results
Smoking behavior varied significantly (P < 0.001) by age group (younger > older), gender, professional status, military agency membership status, and education level (the lower the education level, the higher the smoking rates). With the exception of the downward trend in smoking behavior with increasing age among civilian employees, these results were all significant (P < 0.005).

Conclusions
This data analysis shows that smoking prevalence among personnel in the area of responsibility of the Federal Ministry of Defense is comparable to the current data from corresponding surveys of the German population. Depending on gender, they generally show values that are slightly above those of the German population. The well-known trend in the general population of decreasing smoking prevalence with increasing age is also seen in this analysis. However, there are considerable differences in the smoking prevalence among individual subgroups (professional status, agency, gender, education level). The data show that particular young soldiers in the armed forces should be the target group for further preventive measures.
A type II implementation-effectiveness hybrid quasi-experimental pilot study of a clinical intervention to re-engage people living with HIV into care, ‘Lost & Found’: an implementation science protocol
Authors: Cox Joseph , Linthwaite Blake , Engler Kim , Lessard David , Lebouché Bertrand , Kronfli Nadine 
Published: February 2020

Abstract
Background
At the McGill University Health Centre (MUHC), 10% of patients living with HIV do not return for care annually. Currently, no formal system exists to re-engage out-of-care (OOC) patients. Lost & Found, developed using an implementation science approach, is an intervention to re-engage OOC patients. It is based on existing evidence-based interventions and will be adapted for use by nurses at the MUHC. The aims of this study are to simultaneously assess both implementation and effectiveness of Lost & Found in order to determine the viability of a future multisite stepped-wedge cluster randomised trial.

Methods
Lost & Found consists of two core elements: identifying and contacting OOC patients. Based on formative work involving MUHC nurses, and the use of a combined implementation framework (enhanced Replicating Effective Programs, Tailored Implementation for Chronic Diseases, and Proctor et al.’s implementation outcomes), we will adapt the intervention to our clinic. Adaptations include the creation of an OOC risk prediction tool, an automated real-time OOC list, and prioritization of high-risk OOC patients for re-engagement. Delivery and ongoing adaptation of the intervention will follow a three-pronged implementation strategy consisting of (1) promoting adaptability; (2) planning, engaging, executing, evaluating, and reflecting cycles; and (3) internal facilitation. This 15-month quasi-experimental pilot study adopts a type II implementation-effectiveness hybrid design. To evaluate implementation, a convergent parallel mixed-methods approach will guide the mixing of qualitative and quantitative data at time points throughout the study. In addition, descriptive and pre-post analyses, for each of the implementation and sustainability phases, will inform evaluations of the cumulative effectiveness and sustainability of the Lost & Found intervention.

Discussion
This study will provide preliminary evidence for (1) the utility of our chosen implementation strategies and (2) the effectiveness of the intervention. Ultimately, this information may be used to inform future re-engagement efforts using implementation science in other HIV care centres. In addition, the procedures and measurement tools developed for this study will be foundational to the development of a multi-site, randomised stepped wedge study that would provide more robust evidence in support of the Lost & Found intervention.
Benthic foraminiferal assemblages from the Safranbolu Formation (Cuisian, Eocene), Northwest Anatolia, Turkey
Authors: Okur Kubra , Kutluk Hatice 
Published: February 2020

AbstractTwenty-one outcrop samples collected from a 28-m-thick section from the Safranbolu Formation of the southwestern part of the Safranbolu Basin, Anatolia, Turkey yielded well-preserved benthic foraminifera belonging mainly to the genera Alveolina, Nummulites, Assilina, Rotalia, Disclocyclina and Orbitolites. Alveolina is the most diversified genus that is represented by sixteen species: Alveolina archiaci, A. axiampla, A. barattoloi, A. carantana, A. colatiensis, A. cuspidata, A. distefanoi, A. histrica, A. lehneri, A. oblonga, A. polatliensis, A. rakoveci gueroli, A. ruetimeyeri, A. rugosa, A. safranboluensis and A. sirelii. Alveolina safranboluensis and A. sirelii are described new. Comparison of the fossil assemblage with those assemblages previously reported from both Turkey and other Tethyan sub-basins revealed that the deposition occurred during the Cuisian (Eocene) and corresponded to Shallow Benthic Foraminiferal Zones (SBFZ) 10–12. The abundance and diversity of the larger benthic foraminifera indicated that the Safranbolu Formation was deposited under transgressive conditions.
CART-WHEEL.org: An Ethically Approved Online Database for Patient-Entered Data to Facilitate Rare Cancer Research
Authors: Kee Damien , Parker Clare , Bae Susie , Tucker Katherine M. , Harrison Michelle , Tohidi-Esfahani Ibrahim , Black Marita , Delahunty Rachel , Ananda Sumitra , Friedlander Michael , Cunliffe Heather E. , Gibbs Peter , Desai Jayesh , Trotman Judith , Scott Clare L. 
Published: February 2020

PURPOSE Rare cancers are challenging for researchers, as clinicians and scientists have difficulty recruiting sufficient patient cases to power studies appropriately. Likewise, patients often are frustrated by a lack of specific information or evidence base for their cancer and, although eager to participate in research, have limited opportunities. We established CART-WHEEL.org, an online patient-entered database, to directly engage patients in the research process, collect rare cancer data, and facilitate their entry into additional research. PATIENTS AND METHODS Patients access CART-WHEEL.org directly online. Clinical information is collected from users via a streamlined questionnaire developed collaboratively with consumer groups to ensure accessibility and relevance. Data collected include the following: patient demographics, comorbidities, and risk factors and tumor diagnostic, biomarker, and treatment history. Patients can download a medical summary for personal use; consent for research use of data; and indicate willingness to be contacted about other research or clinical trials. We describe data collected to date and its validation, and we provide examples of how CART-WHEEL.org can facilitate rare cancer research. RESULTS From January 2010 to March 2018, 558 patients provided consent and entered their rare cancer data. One hundred distinct rare tumor types and patients from 22 countries were included. Validation of data entered by 21 patients with sarcoma against a hospital database demonstrated accuracy sufficient to facilitate future research in key fields, such as tumor site (95%) and histopathologic diagnosis (90%). Examples of CART-WHEEL–based disease-specific projects, subsequent recruitment to other rare cancer projects, and rare cancer patient cases of interest are described. CONCLUSIONS Online platforms like CART-WHEEL.org can engage consumers directly, facilitating collection of patient-entered rare cancer data for hypothesis generation, and connect patients with researchers to enable specific rare cancer research and clinical trials.
False Claims Act Liability for Overtreatment
Authors: Howard David 
Published: February 2020

Abstract
Context: Overtreatment is costly, but is it fraud? In a growing number of False Claims Act cases, the Department of Justice has sought and received multimillion dollar settlements from providers accused of billing Medicare for unnecessary care. This article evaluates the use of the False Claims Act as a tool for reducing overuse.
Methods: The author reviewed (1) recent cases where litigants sparred over the applicability of the False Claims Act to overtreatment, and (2) criticisms of the expanding use of the False Claims Act in health care.
Findings: Some judges have dismissed suits on the grounds that expert testimony regarding the necessity of treatment is insufficient for concluding Medicare claims were false or fraudulent. Other judges have let cases proceed, especially in instances where clinicians appear to have overstated the severity of patients' illnesses to justify treatment. Cases that lead to changes in medical practice may result in substantial savings to the Medicare program.
Conclusions: Courts have struggled with how to apply the False Claims Act to overtreatment. False Claims Act cases that address unnecessary care are potentially less problematic than other types of cases that address technical violations with few implications for costs or quality.
Pediatric congenital heart diseases: Patterns of presentation to the emergency department of a tertiary care hospital
Authors: Bano Surraiya , Akhtar Saleem , Khan Uzma Rahim 
Published: February 2020

Objective: To observe presentation of Pediatric congenital cardiac defects to the Emergency Department (ED) of a tertiary care hospital in Pakistan.
Methods: This is a retrospective chart review of patients under the age of 16 years with congenital cardiac defects presenting to the Emergency Department of Aga Khan University Hospital over a period of eighteen months, from January 2012 to June 2013. Study population was divided into two groups; first group constituted children with undiagnosed congenital cardiac defects, whereas second group constituted children with diagnosed congenial cardiac defects presented to ED. In previously diagnose cases each visit was counted as a separate encounter.
Results: Out of 133 children, 44 (33.5%) were diagnosed congenital cardiac disease for the first time (Group-1) in ED, while 89 (66.5%) children were diagnosed cases of congenital heart disease (Group-2). Among Group-1; main reasons for ED visits were cyanosis, cardiac failure, murmur evaluation and cardiogenic shock where as in Group-2; main presentations were cardiac failure, hyper cyanotic spells, gastroenteritis, lower respiratory tract infection, and post-operative issues. There were total 13 deaths.
Conclusion: High index of suspicion is necessary for early diagnosis and management of children with congenital heart disease in the pediatric emergency department.
doi: https://doi.org/10.12669/pjms.36.3.1592
How to cite this:Bano S, Akhtar S, Khan U. Pediatric congenital heart diseases: Patterns of presentation to the emergency department of a tertiary care hospital. Pak J Med Sci. 2020;36(3):333-337. doi: https://doi.org/10.12669/pjms.36.3.1592
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Ρόλοι και δεξιότητες εκπαιδευτικών στην εξ αποστάσεως εκπαίδευση
Authors: ΒΟΓΙΑΤΖΑΚΗ (Vogiatzaki) ΕΙΡΗΝΗ (EIRINI) ΧΑΡΑΛΑΜΠΟΣ 
Published: February 2020

ΠερίληψηΗ εξ αποστάσεως εκπαίδευση αποτελεί καινοτόμο μορφή εκπαίδευσης για πολλούς εκπαιδευτικούς αν και η βασική της μορφή χρονολογείται αρκετά χρόνια πριν. Σε μία διδασκαλία που βασίζεται στην τηλεδιάσκεψη, ο εκπαιδευτικός αναλαμβάνει ρόλο συμβουλευτή, συντονιστή και σε μικρότερο βαθμό προμηθευτή γνώσης και πληροφορίας. Καθώς ο εκπαιδευτής αναλαμβάνει ρόλο πιο ενεργητικό από τη διαδικασία της προμήθειας, εισέρχεται στη διευκόλυνση γνώσης και συντελεί, ώστε να αναπτυχθεί ο εκπαιδευόμενος. Πρόκειται για διαφοροποιημένο ρόλο χωρίς ωστόσο αυτό να σημαίνει ότι είναι ευκολότερος. Ο εκπαιδευτής καλείται να ελέγχει τη διαδικασία της εξ αποστάσεως εκπαίδευσης κάτι που απαιτεί να είναι ευέλικτος, ώστε να ανταποκρίνεται στις ποικίλες ανάγκες των εκπαιδευομένων. Η προσοχή διασπάται σε πολλαπλά ερεθίσματα και ως εκ τούτου ο σχεδιασμός απαιτεί δημιουργικότητα και ο εκπαιδευτικός θα πρέπει να είναι έτοιμος να αξιοποιεί εποικοδομητικά κάθε ευκαιρία που αναδύεται. Στην εξ αποστάσεως εκπαίδευση δεν απαιτείται η παρουσία του εκπαιδευόμενου και μπορεί ο ίδιος να επιλέξει το χρόνο, το ρυθμό που μελετά και συνεπώς έχει την ευθύνη των σπουδών του. Η επικοινωνία συμβάλλει ώστε να ελαττωθούν τα αρνητικά συναισθήματα, η αίσθηση απομόνωσης, το άγχος, η ανασφάλεια και η αγωνία των εκπαιδευομένων εξ αιτίας της απόστασης και των απαιτήσεων του προγράμματος. Η αποτελεσματικότητα του εκπαιδευτή βασίζεται στο βαθμό που μπορεί να υποστηρίξει σε ακαδημαϊκό και προσωπικό επίπεδο τους εκπαιδευόμενους.Λέξεις κλειδιά : εξ’ αποστάσεως εκπαίδευση, φοιτητής, εκπαιδευτής, ρόλοι, επικοινωνία