bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular and environmental characterization of Noonan syndrome in Morocco reveals a significant association with consanguinity and advanced parental age
Authors: El Bouchikhi Ihssane , Bouguenouch Laila , Moufid Fatima Zohra , Samri Imane , Abdouss Fatima , Melhouf Moulay Abdelilah , Iraqui Houssaini Mohammed , Belhassan Khadija , Atmani Samir , Ouldim Karim 
Published: February 2020

AbstractBackgroundNoonan syndrome (NS) is one of the most common RASopathies, with an autosomal dominant inheritance. This disorder is caused by a range of genes belonging to the RAS-MAP kinase (rat sarcoma viral oncogene homolog/mitogen-activated protein kinases) pathway, with PTPN11 (protein-tyrosine phosphatase, non-receptor type 11) being the most involved genetic factor.The aim of this study is to report PTPN11 mutations found in a cohort of Moroccans with Noonan syndrome, compare the mutation rate with various studies, and statistically assess involvement of prominent risk factors in manifestation of this disorder.Thirty-one NS patients were screened for PTPN11 mutations using PCR-Sanger sequencing method. Pathogenic effect prediction, for detected variants, was carried out using PROVEAN, MutationTaster2, and HSF programs. Statistical tests were performed with R software. Chi-square and Fisher’s exact tests were used in percentage comparisons, while Student’s test was used in average comparisons.ResultsWe detected five pathogenic mutations, one synonymous variant with a potential altering effect on splicing function, and three novel intronic duplications. PTPN11 mutation rate in our cohort is around 16.13%. Comparison of this rate with the corresponding rates in various populations shows notably significant differences across continents.ConclusionsBesides genetic factors, the present study suggests involvement of additional environmental factors. Statistical assessment of clinical data confirms particularly the association of NS manifestation with consanguinity and advanced paternal age, and suggests an eventual implication of advanced maternal age as well.
Changes in glomerular filtration rate and clinical course after sequential doses of carboplatin in children with embryonal brain tumors undergoing autologous stem cell transplantation
Authors: Elborai Yasser , Almutereen Mohammad , Maher Ossama M. , Hafez Hanafy , Lee Michelle A. , Lehmann Leslie 
Published: February 2020

Abstract
Background
Treatment for malignant embryonal brain tumors in young children usually employs cycles of standardly dosed cisplatinum followed by high-dose carboplatinum-containing conditioning with single or tandem autologous stem cell rescue (HDC-ASCR). High-dose carboplatin is potentially nephrotoxic, and additive platinum exposure may acutely impact renal function. Aiming to determine if decrease in renal function during conditioning assessed prior to each carboplatin dose was associated with acute increases in creatinine, requirement for dialysis or transplant-related mortality (TRM). This was a retrospective study of consecutive patients with medulloblastoma (n = 15) / atypical teratoid/rhabdoid tumor (AT/RT, n = 5) receiving HDC-ASCR. Fifteen patients underwent 1 HDC-ASCR (carboplatin × 3 doses/ etoposide/ thiotepa) and 5 patients underwent at least 1 of 3 planned tandem HDC-ASCR (carboplatin × 2 doses/ thiotepa). Renal function was assessed by daily creatinine and nuclear medicine glomerular filtration rate (GFR)/ creatinine clearance before each carboplatin dose.

Results
In this cohort of 20 patients, 3 had doses of carboplatin omitted due to decreases in GFR: 1 did not develop nephrotoxicity, 1 experienced nephrotoxicity without need for dialysis, and 1 required dialysis temporarily but recovered renal function. Two patients did not have GFR changes but developed post-ASCR renal failure requiring dialysis and TRM.

Conclusion
Daily assessment of renal function by GFR, prior each dose of carboplatin during HDC-ASCR, will help in protecting the kidney in heavily treated population of oncology/HSCT patients. Although the study had a small number of patients which is a major limitation of the study, but it points to a serious transplant-related morbidity and mortality. So, larger scale studies are needed to clarify the best approach to carboplatin dosing to insure the optimal balance between efficacy and toxicity.
Total anomalous pulmonary venous drainage repair: the effect of anatomical type and pulmonary vein stenosis on outcomes
Authors: Al-Radi Osman O. , Elmahrouk Ahmed , Ismail Mohamed , Helal Abdelmonem , Hamouda Tamer 
Published: February 2020

Abstract
Background
Surgical repair of total anomalous venous drainage (TAPVD) is lifesaving. The operative mortality is reported between 4 and 35%. Anatomical type, obstructed presentation, associated single ventricle, and heterotaxy syndromes are thought to influence short- and long-term outcomes. The effect of simple versus sutureless repair for primary surgery is unclear. This study reports the outcomes of the surgical repair and the effect of these variables in a contemporary setting.

Results
Between 2011 and 2019, all patients undergoing surgical repair for TAPVD were included. Operative mortality, length of hospital stay, and long-term survival were reported. The effect of anatomical type, surgical technique, obstruction, and associated lesions was assessed. Pearson’s test, Wilcoxson’s test, and generalized linear regression with Poisson distribution were used.
Forty-nine patients from two centers underwent TAPVD repair. The operative mortality was 4%. Postoperative pulmonary vein stenosis occurred in three patients, and reoperation was done in one patient. Survival free from reoperation was 98%, 98%, and 90% at 1, 24, and 60 months in the absence of pulmonary vein stenosis. However, all three patients who developed pulmonary vein stenosis died, at 0.5, 2.7, and 6.3 months of follow-up, respectively. We were unable to detect a significant effect of anatomical type, preoperative obstruction, associated single ventricle, or heterodoxy syndrome on operative mortality or long-term freedom from death or reoperation. Patients who presented with obstruction and infracardiac or supracardiac TAPVD had longer hospital stay.

Conclusion
TAPVD repair outcomes are excellent except for patients who develop postoperative pulmonary venous stenosis. Anatomical type, obstructed presentation, associated single ventricle, or heterotaxy are not significant predictors of survival.
Biopharmaceutical Understanding of Excipient Variability on Drug Apparent Solubility Based on Drug Physicochemical Properties: Case Study—Hypromellose (HPMC)
Authors: Zarmpi P. , Flanagan T. , Meehan E. , Mann J. , Fotaki N. 
Published: February 2020

AbstractIdentification of the biopharmaceutical risks of excipients and excipient variability on oral drug performance can be beneficial for the development of robust oral drug formulations. The current study investigated the impact of Hypromellose (HPMC) presence and varying viscosity type, when used as a binder in immediate release formulations, on the apparent solubility of drugs with wide range of physicochemical properties (drug ionization, drug lipophilicity, drug aqueous solubility). The role of physiological conditions on the impact of excipients on drug apparent solubility was assessed with the use of pharmacopoeia (compendial) and biorelevant media. Presence of HPMC affected drug solubility according to the physicochemical properties of studied compounds. The possible combined effects of polymer adsorption (drug shielding effect) or the formation of a polymeric viscous layer around drug particles may have retarded drug dissolution leading to reduced apparent solubility of highly soluble and/or highly ionized compounds and were pronounced mainly at early time points. Increase in the apparent solubility of poorly soluble low ionized drugs containing a neutral amine group was observed which may relate to enhanced drug solubilization or reduced drug precipitation. The use of multivariate data analysis confirmed the importance of drug physicochemical properties on the impact of excipients on drug apparent solubility and revealed that changes in HPMC material properties or amount may not be critical for oral drug performance when HPMC is used as a binder. The construction of a roadmap combining drug, excipient, and medium characteristics allowed the identification of the cases where HPMC presence may present risks in oral drug performance and bioavailability.
Elastic turbulence in two-dimensional cross-slot viscoelastic flows
Authors: Canossi D. O. , Mompean G. , Berti S. 
Published: February 2020

Abstract
We report evidence of irregular unsteady flow of two-dimensional polymer solutions in the absence of inertia in cross-slot geometry using numerical simulations of Oldroyd-B model. By exploring the transition to time-dependent flow vs. both the fluid elasticity and the polymer concentration, we find a periodic behaviour close to the instability threshold and more complex flows at larger elasticity, in agreement with experimental findings. For high enough elasticity we obtain dynamics pointing to elastic turbulence, with temporal spectra of velocity fluctuations showing a power-law decay, of exponent between –3 and –2, and probability density functions of velocity fluctuations that weakly deviate from Gaussianity while high non-Gaussian tails characterise those of local accelerations.
In Vitro Impact of FSH Glycosylation Variants on FSH Receptor-stimulated Signal Transduction and Functional Selectivity
Authors: Zariñán Teresa , Butnev Viktor Y , Gutiérrez-Sagal Rubén , Maravillas-Montero José Luis , Martínez-Luis Iván , Mejía-Domínguez Nancy R , Juárez-Vega Guillermo , Bousfield George R , Ulloa-Aguirre Alfredo 
Published: February 2020

AbstractFSH exists as different glycoforms that differ in glycosylation of the hormone-specific β-subunit. Tetra-glycosylated FSH (FSH24) and hypo-glycosylated FSH (FSH18/21) are the most abundant glycoforms found in humans. Employing distinct readouts in HEK293 cells expressing the FSH receptor, we compared signaling triggered by human pituitary FSH preparations (FSH18/21 and FSH24) as well as by equine FSH (eFSH), and human recombinant FSH (recFSH), each exhibiting distinct glycosylation patterns. The potency in eliciting cAMP production was greater for eFSH than for FSH18/21, FSH24, and recFSH, whereas in the ERK1/2 activation readout, potency was highest for FSH18/21 followed by eFSH, recFSH, and FSH24. In β-arrestin1/2 CRISPR/Cas9 HEK293-KO cells, FSH18/21 exhibited a preference toward β-arrestin-mediated ERK1/2 activation as revealed by a drastic decrease in pERK during the first 15-minute exposure to this glycoform. Exposure of β-arrestin1/2 KO cells to H89 additionally decreased pERK1/2, albeit to a significantly lower extent in response to FSH18/21. Concurrent silencing of β-arrestin and PKA signaling, incompletely suppressed pERK response to FSH glycoforms, suggesting that pathways other than those dependent on Gs-protein and β-arrestins also contribute to FSH-stimulated pERK1/2. All FSH glycoforms stimulated intracellular Ca2+ (iCa2+) accumulation through both influx from Ca2+ channels and release from intracellular stores; however, iCa2+ in response to FSH18/21 depended more on the latter, suggesting differences in mechanisms through which glycoforms promote iCa2+ accumulation. These data indicate that FSH glycosylation plays an important role in defining not only the intensity but also the functional selectivity for the mechanisms leading to activation of distinct signaling cascades.
Exploration of constructs of professionalism identified in the ABIM framework as perceived by the faculty fitting the Pakistani context
Authors: Khan Humaira Fayyaz , Yasmeen Raheela 
Published: February 2020

Objective: Domains of professionalism are well-described in the literature. Examining the elements of Professionalism in the local context have received less attention from education experts. The aim of the study was to explore the construct of professionalism as perceived by the faculty that fitted the Pakistani context identified in the ABIM framework of professionalism.
Methods: This qualitative ethnographic research was conducted involving nine participants from Islamic International Medical College in Riphah University Islamabad. A four hours Focus Group Discussion was undertaken to explore the views of the faculty. The focus group session was audiotaped, transcribed and technique of triangulation was employed. Shortened meaningful unit (SMU) were identified from the transcribed data and analyzed to make codes for themes for the behaviors. Forty-six meaningful units were categorized and codes were identified. The themes were identified under the domains of the ABIM frameworks for the Pakistani context.
Results: The participants listed 2-8 elements for each domain of the framework describing the professional conduct which lead to 140 shortened meaningful units. These were organized into 46 higher order codes.
Conclusions: The study concludes that that ABIM framework can be used to build consensus regarding the domains of professionalism. No difference was found cross contextually regarding the domains of ABIM framework of professionalism.
doi: https://doi.org/10.12669/pjms.36.3.1573
How to cite this:Khan HF, Yasmeen R. Exploration of constructs of professionalism identified in the ABIM framework as perceived by the faculty fitting the Pakistani context. Pak J Med Sci. 2020;36(3):473-478. doi: https://doi.org/10.12669/pjms.36.3.1573
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.
Post-ERCP Pancreatitis: Risk factors and role of NSAIDs in primary prophylaxis
Authors: Nawaz Muhammad Haseeb , Sarwar Shahid , Nadeem Muhammad Arif 
Published: February 2020

Objective: To determine efficacy of diclofenac suppository in reducing post-ERCP pancreatitis (PEP) and identify risk factors for PEP.
Methods: This is a placebo-based prospective study at Department of Medicine & Gastroenterology, Services Institute of Medical Sciences / Services Hospital, Lahore performed from January 2018 to June 2019. Patients were randomized to receive diclofenac suppository or glycerine suppository before ERCP. Both groups were compared for PEP using chi square x2 test while risk factors for PEP were determined using binary logistic regression.
Results: Total of 165 patients with mean age 49.1(±15.2) and male to female ratio 1/1.6 (63/102) were included. Among 82 (49.7%) patients in diclofenac group, 8 (9.7%) developed pancreatitis while 19(22.9%) of 83(50.3%) in placebo group had PEP (p value 0.02). After multivariate analysis, age>45 years (p value 0.014, OR 3.2), Bilirubin >3 mg/dl (p value 0.004 OR 3.58), time to cannulation> 5 minutes (p value<0.000 OR 9.2), use of precut (p value< 0.000 OR 4.9), pancreatic duct cannulation (p value 0.000 OR 5.46) and total procedure time >30 minutes (p value 0.01 OR 3.92) were risk factors for PEP.
Conclusion: Pre-procedure Diclofenac suppository reduces post-ERCP pancreatitis. Age > 45 years, serum bilirubin > 3 mg/dl, cannulation time > 5 minutes, use of precut, pancreatic duct cannulation and procedure time > 30 minutes are risk factors for post-ERCP pancreatitis.
doi: https://doi.org/10.12669/pjms.36.3.1804
How to cite this:Nawaz MH, Sarwar S, Nadeem MA. Post-ERCP Pancreatitis: Risk factors and role of NSAIDs in primary prophylaxis. Pak J Med Sci. 2020;36(3):426-431. doi: https://doi.org/10.12669/pjms.36.3.1804
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.
Demonstration of the mode-selection rules obeyed in a single-helix helical long-period fiber grating
Authors: Wang Peng , Zhao Hua , Detani Taishu , Tsuyuki Yuhta , Li Hongpu 
Published: February 2020

A simple method enabling the validation of the mode-selection rules obeyed in a single-helix helical long-period fiber grating (SHLPG) has been demonstrated both theoretically and experimentally, which is realized by investigating and analyzing the circular dichroism (CD) and the polarization dependence loss (PDL) spectra of the utilized SHLPG. It is confirmed for the first time, to the best of our knowledge, that in terms of the SHLPG’s helicity, the core mode

H
E

11

with either the left circular polarization or the right circular polarization will be selectively coupled into the higher HE or the TE/TM mode, respectively. As a result, the SHLPG would exhibit an enhanced CD, as well as an enhanced PDL near the resonant wavelengths of the HE and TE/TM modes, respectively. The results presented in this Letter will be helpful for efficiently designing and producing SHLPG-based circular polarizers and orbital-angular-momentum generators.
Variational approximation of functionals defined on 1-dimensional connected sets in ℝ
n
Authors: Bonafini Mauro , Orlandi Giandomenico , Oudet Édouard 
Published: February 2020

Abstract
In this paper we consider the Euclidean Steiner tree problem and, more generally, (single sink) Gilbert–Steiner problems as prototypical examples of variational problems involving 1-dimensional connected sets in

ℝ
n

{\mathbb{R}^{n}}

. Following the analysis for the planar case presented in [M. Bonafini, G. Orlandi and E. Oudet, Variational approximation of functionals defined on 1-dimensional connected sets: The planar case, SIAM J. Math. Anal. 50 2018, 6, 6307–6332], we provide a variational approximation through Ginzburg–Landau type energies proving a Γ-convergence result for

n
≥
3

{n\geq 3}

.
Some topics in differential geometry of normed spaces
Authors: Balestro Vitor , Martini Horst , Teixeira Ralph 
Published: February 2020

Abstract
For a surface immersed in a three-dimensional space endowed with a smooth norm instead of an inner product, one can define analogous concepts of curvature and metric. With such concepts in mind, various questions immediately appear. The aim of this paper is to propose and answer some of those questions. In this framework we prove several characterizations of minimal surfaces in normed spaces, and respective analogues of some global theorems (e.g., Hadamard-type theorems) are also derived. A result on the curvature of surfaces having constant Minkowskian width is given, and finally we study the ambient metric induced on the surface, proving an extension of the classical Bonnet theorem.
The pathway through LC-MS method development: in-house or ready-to-use kit-based methods?
Authors: Le Goff Caroline , Farre-Segura Jordi , Stojkovic Violeta , Dufour Patrice , Peeters Stéphanie , Courtois Justine , Nizet Adrien , De Vos Nathalie , Cavalier Etienne 
Published: February 2020

Abstract
Historically, the determination of low concentration analytes was initially made possible by the development of rapid and easy-to-perform immunoassays (IAs). Unfortunately, typical problems inherent to IA technologies rapidly appeared (e.g. elevated cost, cross-reactivity, lot-to-lot variability, etc.). In turn, liquid chromatography tandem mass spectrometry (LC-MS/MS) methods are sensitive and specific enough for such analyses. Therefore, they would seem to be the most promising candidates to replace IAs. There are two main choices when implementing a new LC-MS/MS method in a clinical laboratory: (1) Developing an in-house method or (2) purchasing ready-to-use kits. In this paper, we discuss some of the respective advantages, disadvantages and mandatory requirements of each choice. Additionally, we also share our experiences when developing an in-house method for cortisol determination and the implementation of an “ready-to-use” (RTU) kit for steroids analysis.
Significant Influence of Welding Heat Input on the Microstructural Characteristics and Mechanical Properties of the Simulated CGHAZ in High Nitrogen V-Alloyed Steel
Authors: Zhang Jing , Xin Wenbin , Luo Guoping , Wang Ruifen , Meng Qingyong 
Published: February 2020

AbstractThe microstructural characteristics and mechanical properties of the simulated coarse grained heat affected zone (CGHAZ) in high N V-alloyed steel have been conducted under different welding heat input, characterized by the cooling time taken from 800°C to 500°C (t8/5). The experimental results show that the microstructure is dominantly composed of lath bainite (LB) and granular bainite (GB) at t8/5 30 s– 90 s. The content of LB decreases with t8/5 increasing, and that of GB increases. When t8/5 further increases to 120 s and 180 s, the microstructure mainly consists of intragranular polygonal ferrite (IPF) and acicular ferrite (IAF). The higher t8/5 leads to the increased content of intragranular ferrite (IGF). Meanwhile, the prior austenite grain size (PAGS) progressively increases from 56 ± 6.0 μm to 148 ± 9.9 μm as t8/5 increases from 30 s to 180 s. Besides, EBSD analysis indicates that the fraction of high angle grain boundaries (HAGBs) is 0.570, 0.427 and 0.624, respectively, corresponding to t8/5 30, 90 and 180 s. Moreover, the impact toughness decreases as t8/5 increases from 30 s to 90 s caused by the increased PAGS and GB content, and then sharply increases with t8/5 exceeding 90 s due to the increased formation of IGF, especially IAF. Furthermore, the high nitrogen content accelerates V(C,N) precipitation, which not only inhibits the coarsening of prior austenite grains, but promotes the formation of IGF, resulting in the increased number of HAGBs and raising impact toughness.
Wireless Power Transfer Topologies used for Static and Dynamic Charging of EV Battery: A Review
Authors: Subudhi Partha Sarathi , S Krithiga 
Published: February 2020

AbstractElectric vehicles (EV) are found to be a good alternative for the conventional internal combustion (IC) engine vehicles in transportation sector due to its various advantages. Now-a-days, wireless charging of EV battery is preferred among the various methods used for charging EV battery. In this paper, extensive review is carried out on various methods used for wireless charging of an EV battery. Different techniques used for transferring power in wireless mode to charge the EV battery are static EV charging technique and dynamic EV charging technique. Static wireless EV battery charging technique adopts inductive and capacitive method for transferring power whereas, dynamic wireless EV battery charging technique adopts only inductive method for transferring power. These techniques are discussed thoroughly in this paper and broad review is carried out with a focus on the compensation circuit topologies, types of core for magnetic coupled inductors, different converters and controllers used for wireless power transfer (WPT) system. Also, design aspects of an static wireless EV battery charging system along with its equivalent circuit analysis is presented in this paper. Challenges and future development in wireless charging of EV battery is also explained in this paper.