Investigating the physical and optoelectronic characteristics of Co2ZrZ compounds: findings from computational analysis and thermoelectric evaluation.

CONTEXT AND RESULTS: The study examines the physical characteristics of Co2ZrZ compounds using the Wien2k code and the Anisimov and Gunnarsson approach. Results show metallic attributes in Co2ZrBi and Co2ZrAs, while Co2ZrPb exhibits semi-metallic tendencies. Energy gap evaluations reveal significant infrared transitions, indicating altered electron mobility compensated by increased ultraviolet absorption. These compounds have potential in space solar energy applications due to UV light absorption capabilities, especially in Co2ZrPb. The study also identifies optical phenomena like "super-luminescence" and plasmatic oscillations. COMPUTATIONAL AND THEORETICAL TECHNIQUES: The study uses computational techniques like Wien2k calculation code and Hubbard parameter calculations to investigate Co2ZrPb, a compound with potential for space energy applications. Energy gap assessments are conducted using GGA and mBJ-GGA methods. The study also analyzes the optical behavior of the compounds, including infrared and ultraviolet absorption. The BoltzTraP code is used for thermoelectric investigations, revealing a P-type charge carrier predominance in Co2ZrPb. This comprehensive approach provides valuable insights into electrical conductivity and thermoelectric properties.

Headache associated with refractive errors: Characteristics and risk factors.

INTRODUCTION: The purpose of our work was to study the characteristics of Headache associated with refractive errors (HARE)1, and to search for the correlation between headaches characteristics and some risk factors. We aimed also to assess the impact of these headaches on the quality of life of patients. METHODS: A cross-sectional, retrospective, comparative study including 90 patients followed between August 2019 and January 2020. These patients were divided into two groups: Group 1 including patients presenting headaches due to uncorrected ametropia, and group 2 including control subjects. We studied HARE characteristics, the influence of certain risk factors (profession, triggers factors, characteristics of ametropia, and orthoptic abnormalities) on them, their evolution after one month of treatment, and their impact on patients' quality of life with the HIT-6 score. RESULTS: Headaches due to ametropia were mainly chronic (20.9±15.76 months on average) progressive (100% of cases), daily (90% of cases) predominantly during the second half of the day (82% of cases). They were moderate (64% of cases), with a fronto-orbital topography in 52% of cases. Headaches were compression-type in 36% of cases (18 patients) and pressure-type in 64% (32 patients). The multivariate study retained prolonged screen working (P=0.013), combined ametropias (P=0.001), moderate hyperopia (P=0.01) and astigmatism (P=0.03) to be risk factors of HARE. Headaches induced a substantial to major impact on the quality of life in 68% (34 patients had a score greater than 55), the latter is significantly influenced by the presence of high myopia. After optical correction and orthoptic treatment, we noted an improvement in headache in 100% of cases. The multivariate analysis did not identify any independent factor that impact the evolution of headache at one month. CONCLUSION: HARE may influence life quality; it needs an appropriate treatment based on risk factor management. A healthy lifestyle in addition to adequate refractive error correction is essential in children and, sometimes in adults. Oculomotor abnormalities treatment leads to improve long term results.

Minimal residual disease detection in Tunisian B-acute lymphoblastic leukemia based on immunoglobulin gene rearrangements.

IGH gene rearrangement and IGK-Kde gene deletion can be used as molecular markers for the assessment of B lineage acute lymphoblastic leukemia (B-ALL). Minimal residual disease detected based on those markers is currently the most reliable prognosis factor in B-ALL. The aim of this study was to use clonal IGH/IGK-Kde gene rearrangements to confirm B-ALL diagnosis and to evaluate the treatment outcome of Tunisian leukemic patients by monitoring the minimal residual disease (MRD) after induction chemotherapy. Seventeen consecutive newly diagnosed B-ALL patients were investigated by multiplex PCR assay and real time quantitative PCR according to BIOMED 2 conditions. The vast majority of clonal VH-JH rearrangements included VH3 gene. For IGK deletion, clonal VK1f/6-Kde recombinations were mainly identified. These rearrangements were quantified to follow-up seven B-ALL after induction using patient-specific ASO. Four patients had an undetectable level of MRD with a sensitivity of up to 10-5. This molecular approach allowed identification of prognosis risk group and adequate therapeutic decision. The IGK-Kde and IGH gene rearrangements might be used for diagnosis and MRD monitoring of B-ALL, introduced for the first time in Tunisian laboratories.

Minimal residual disease detection in Tunisian B-acute lymphoblastic leukemia based on immunoglobulin gene rearrangements

IGH gene rearrangement and IGK-Kde gene deletion can be used as molecular markers for the assessment of B lineage acute lymphoblastic leukemia (B-ALL). Minimal residual disease detected based on those markers is currently the most reliable prognosis factor in B-ALL. The aim of this study was to use clonal IGH/IGK-Kde gene rearrangements to confirm B-ALL diagnosis and to evaluate the treatment outcome of Tunisian leukemic patients by monitoring the minimal residual disease (MRD) after induction chemotherapy. Seventeen consecutive newly diagnosed B-ALL patients were investigated by multiplex PCR assay and real time quantitative PCR according to BIOMED 2 conditions. The vast majority of clonal VH-JH rearrangements included VH3 gene. For IGK deletion, clonal VK1f/6-Kde recombinations were mainly identified. These rearrangements were quantified to follow-up seven B-ALL after induction using patient-specific ASO. Four patients had an undetectable level of MRD with a sensitivity of up to 10-5. This molecular approach allowed identification of prognosis risk group and adequate therapeutic decision. The IGK-Kde and IGH gene rearrangements might be used for diagnosis and MRD monitoring of B-ALL, introduced for the first time in Tunisian laboratories.

[Juvenile myelomonocytic leukemia: A three-case series]. / Leucémie myélomonocytaire juvénile : à propos de trois cas.

Juvenile myelomonocytic leukemia (JMML), previously known as juvenile chronic myeloid leukemia (JCML), is a rare, myelodysplastic-myeloproliferative disease typically presenting in early childhood. This disorder is difficult to distinguish from other myeloproliferative syndromes such as chronic myeloid leukemia (CML) because of the similarities in their clinical and bone marrow findings. However, because of its unique biological characteristics such as absolute monocytosis with dysplasia, absence of Philadelphia chromosome or BCR-ABL fusion protein, hypergammaglobulinemia, and raised fetal hemoglobin level, this disorder does not satisfy the criteria for inclusion in the CML or chronic myelomonocytic leukemia (CMML) group, as seen in adult patients. We describe three cases of JMML, who had very similar clinical and laboratory findings.

Application of an LC-MS/MS method for the simultaneous quantification of human intestinal transporter proteins absolute abundance using a QconCAT technique.

Transporter proteins expressed in the gastrointestinal tract play a major role in the oral absorption of some drugs, and their involvement may lead to drug-drug interaction (DDI) susceptibility when given in combination with drugs known to inhibit gut wall transporters. Anticipating such liabilities and predicting the magnitude of the impact of transporter proteins on oral drug absorption and DDIs requires quantification of their expression in human intestine, and linking these to data obtained through in vitro experiments. A quantitative targeted absolute proteomic method employing liquid chromatography coupled to tandem mass spectrometry (LC-MS/MS) together with a quantitative concatenation (QconCAT) strategy to provide proteotypic peptide standards has been applied to quantify ATP1A1 (sodium/potassium-ATPase; Na/K-ATPase), CDH17 (human peptide transporter 1; HPT1), ABCB1 (P-glycoprotein; P-gp), ABCG2 (breast cancer resistance protein; BCRP), ABCC2 (multidrug resistance-associated protein 2; MRP2) and SLC51A (Organic Solute Transporter subunit alpha; OST-α), in human distal jejunum (n=3) and distal ileum (n=1) enterocyte membranes. Previously developed selected reaction monitoring (SRM) schedules were optimised to enable quantification of the proteotypic peptides for each transporter. After harvesting enterocytes by calcium chelation elution and generating a total membrane fraction, the proteins were subjected to proteolytic digestion. To account for losses of peptides during the digestion procedure, a gravimetric method is also presented. The linearity of quantifying the QconCAT from an internal standard (correlation coefficient, R(2)=0.998) and quantification of all target peptides in a pooled intestinal quality control sample (R(2)≥ 0.980) was established. The assay was also assessed for within and between-day precision, demonstrating a <15% coefficient of variation for all peptides across 3 separate analytical runs, over 2 days. The methods were applied to obtain the absolute abundances for all targeted proteins. In all samples, Na/K-ATPase, HPT1, P-gp and BCRP were detected above the lower limit of quantitation (i.e., >0.2 fmol/µg membrane protein). MRP2 abundance could be quantified in distal jejunum but not in the distal ileum sample. OST-α was not detected in 2 out of 3 jejunum samples. This study highlights the utility of a QconCAT strategy to quantify absolute transporter abundances in human intestinal tissues.

[Peripapillary changes detected by SD OCT in eyes in high myopia]. / Étude des anomalies péripapillaires en SD OCT dans la myopie forte.

PURPOSE: To study the morphologic alterations around the optic disc by spectral optical coherence tomography (SD OCT) in eyes with high myopia. PATIENTS AND METHODS: Two hundred eyes (113 patients) with high myopia were included. The participants had complete ophthalmologic examinations and OCT examinations. OCT scans were obtained around the optic in each patient. RESULTS: We detected by OCT, a peripapillary detachment in 14 eyes (11.0%), a retinischisis peripapillary in 10 eyes (5%) and paravascular abnormalities as microfolds and paravascular cysts in 80 eyes (40%). A statistically significant difference was found between patients with microfolds paravascular and the rest of the patients concerning age (P=0.0034) and axial length (P=0.001). The patients with paravascular cysts were older (P=0.0022), had a greater axial length (P=0.0044) and a high rate of posterior staphyloma compared to other patients. CONCLUSION: Perpapillary changes detected by SD OCT in eyes in high myopia are relatively frequent and don't always present a clinical or ophthalmoscopic changes.

[Choroidal thickness assessment with SD-OCT in high myopia with dome-shaped macula]. / Épaisseur choroïdienne fovéolaire au SD-OCT dans la myopie forte avec macula bombée.

PURPOSE: To measure macular choroidal thickness (CT) using spectral-domain optical coherence tomography (SD-OCT) in highly myopic eyes with dome-shaped macula (DSM), and to investigate whether the choroid is thicker in these eyes compared to highly myopic eyes without MB. PATIENTS AND METHODS: A cross-sectional study of 200 eyes was performed between January 2010 and June 2012. Twenty-four highly myopic eyes (12%) had a dome-shaped macula. All patients underwent a complete ophthalmological examination, SD-OCT (TOPCON 2000), and B-scan ultrasonography. OCT scans were analyzed in 7 sections, and subfoveal CT was measured manually between the Bruch's membrane and the internal aspect of the sclera. The 20 eyes with isolated dome-shaped macular were paired by age and axial length (AL) with 20 eyes without macular involvement. RESULTS: In the subgroup with isolated MB, the mean subfoveal CT was 101.86 µm (± 21.35 µm). A statistically significant negative correlation was found between CT and AL (r=-0.623, P=0.0001). The regression equation demonstrated a decrease of 8.3 µm per mm of AL. In the subgroup without MB, matched with the subgroup with MB by age (P=0.591), and AL (P=0.815), the mean subfoveal CT was 89.54 µm (± 20.12 µm). The comparison between the two subgroups found a statistically significant difference in subfoveal CT (P<10-4). CONCLUSIONS: In our study, choroidal thickness is increased in highly myopic eyes with dome-shaped macula compared to highly myopic eyes without dome-shaped macula. These findings suggest that abnormalities of the choroid may play a role in the pathogenesis of dome-shaped macula.

[Factors linked to foveoschisis in high myopia]. / Étude des facteurs associés au fovéoschisis dans la myopie forte.

PURPOSE: To investigate the factors linked to foveoschisis in high myopia. METHODS: Retrospective study of 113 patients (200 eyes) with high myopia was conducted between January 2010 and June 2012. Subjects underwent a complete ophthalmic examination, spectral domain optical coherence tomography (OCT TOPCON 2000) and ocular echography. RESULTS: Of the 200 eyes, 22 (11%) had foveoschisis on OCT examination. On the basis of univariate analysis, five variables were associated with the pathologic changes, including spherical equivalent over 10 diopters (P=0.044), axial length over 30 mm (P=0.0028), macular chorioretinal atrophy (P=0.0009), posterior staphyloma (P=0.0007) and vitreoretinal interface factors (P=0.0002). In the multivariate analysis, three factors were independently associated with foveoschisis in high myopia: axial length (adjusted OR, 16.7; IC 95% 1.4-219.7, P=0.036), macular chorioretinal atrophy (adjusted OR, 13.2; IC 95%, 1.3-133.1, P=0.044), and vitreoretinal interface factors (adjusted OR, 36.1; IC 95%, 3.5-376.9, P=0.002). CONCLUSIONS: In our study, axial length, macular chorioretinal atrophy, and vitreoretinal interface factors were independently associated foveoschisis in highly myopic eyes.