Journals
2025 EN
Faranoush Mohammad · Naseripour Masood · Faranoush Pooya
+11 more
ABSTRACT Background Retinoblastoma (Rb) is a rare intraocular malignancy that originates in the retina of children under 5 years of age. Approximately one‐third of children diagnosed with retinoblastoma are associated with germline mutations in one of the RB1 alleles. In this study, we aim to identify RB1 mutations in retinoblastoma patients using Sanger sequencing in combination with multiplex ligation‐dependent probe amplification (MLPA). Method The genomic DNA of 167 Rb patients was isolated from peripheral blood and their clinical information was extracted from medical records. The mutations in the RB1 gene were identified through PCR sequencing. Negative results from the PCR sequencing were further analyzed using MLPA reactions. Results RB1 mutations were identified in 56 of the 167 (33.5%) patients. The common mutation types were frameshift mutations ( n = 19), followed by nonsense ( n = 20), splicing ( n = 8), missense ( n = 5), and whole exon deletion ( n = 2). The overall survival rate was 98.2%, with an average follow‐up duration of 59 months. Moreover, germline RB1 mutation's correlation with enucleation rates is less pronounced in unilateral cases (12.1%) compared to bilateral cases (65.5%). A total of 13 novel mutations have been identified, of which four are specifically associated with enucleation. Conclusion This study provides a comprehensive analysis of RB1 germline mutations in a group of cases with Rb, leading to the identification of 13 novel mutations in Rb patients at a referral center in Iran. We expect that our findings will yield valuable insights to inform the management and genetic counseling of Rb patients, as well as their relatives who are at a higher risk.
Journals
2025 EN
Zamani Zahra · Tamartash Reza · Heydari Qodratollah
+1 more
ABSTRACT This study investigates the influence of environmental factors on the secondary metabolites of Stachys lavandulifolia Vahl., focusing on how soil properties, temperature, and precipitation affect the yield and chemical composition of its essential oils. The research was conducted in two domains within three rangelands in Mazandaran province, Iran. Data were analyzed using SPSS software. The findings indicated significant variations in essential oil yield across the southern domains of all three study areas. Variance analysis revealed that the interaction between area and domain significantly influenced most of the essential oil compositions, with exceptions for α‐copaene, α‐thujene, spathulenol, germacrene‐D, hexadecanoic acid, and cis ‐farnesol. The mean comparison demonstrated substantial differences in the compositions of α‐pinene, α‐thujene, myrcene, phytol, and bicyclogermacrene between the northern and southern domains. Furthermore, correlation analysis identified significant relationships between essential oil compositions and various soil factors, such as moisture content, soil stability index, bulk density, phosphorus (P), potassium (K), calcium (Ca), calcium oxide (CaO), magnesium (Mg), sodium (Na), nitrogen (N), sodium adsorption ratio, silt, clay, and organic matter. However, due to the favorable habitat conditions, no significant correlations were observed between temperature, rainfall, and the essential oil compositions in these areas.
Journals
2025 EN
Neißner Konstantin · Frohnapfel Carolin · Keller Heiko
+5 more
Abstract The cyclic dinucleotide c‐di‐GMP is an important second messenger molecule in bacteria and interacts with a variety of receptor molecules including RNA and protein domains. An important class of c‐di‐GMP‐binding protein domains are the general secretory pathway type II (GSPII) domains as exemplified by the N‐terminal domain of the ATPase MshE from Vibrio cholerae (MshEN). MshEN binds monomeric c‐di‐GMP via two consecutive copies of a 24‐residue sequence motif, which form a compact 4‐α‐helical bundle. The ATPase PilF from Thermus thermophilus regulates pilus formation, motility and DNA‐uptake. Its N‐terminal section contains three consecutive GSPII domains (GSPII‐A‐GSPII‐C) all with considerable sequence homology to MshEN. While the GSPII‐B and the GSPII‐C domains bind c‐di‐GMP, the GSPII‐A domain does not. To determine why it is incapable of c‐di‐GMP‐binding we determined the NMR‐solution structure of this domain. Our structure shows how small deviations in the consensus motif sequence, a stabilizing N‐terminal helical capping motif and intersubdomain interactions absent in MshEN cooperate to prevent c‐di‐GMP‐binding. By combining point mutations and truncations, we re‐established the c‐di‐GMP binding capability. Our findings shed new light on the evolution and functional diversification of GSPII domains and the importance of sequence variations for protein activity in this domain family.
Journals
2025 EN
Azimi Seyyede Zeinab · Aslani Fatemeh Sari · Parvizi Mohammad Mahdi
+1 more
ABSTRACT Lichen sclerosus (LSc) is an inflammatory skin disease of unknown etiology. The coexistence of LSc and morphea in the same lesion is uncommon but exists. Also, there exist a few rare cases of bullous LSc–generalized morphea overlap syndrome.
Journals
2025 EN
Ghahartars Mehdi · Azimi Seyyede Zeinab · Akbarzadeh Jahromi Mojgan
+1 more
ABSTRACT Scleromyxedema is an unpredictable but progressive disease and can be lethal due to systemic involvement if not diagnosed timely. Hence, we require a keen observational clinical eye to diagnose the condition from its differentials, along with further research into treatment modalities to treat this condition.
Journals
2025 EN
Zaree Masoumeh · Namavar Jahromi Bahia · Parsanezhad Mohammad Ebrahim
+4 more
ABSTRACT Endometrial thickness (ET) is an important parameter of determining endometrial receptivity for in vitro fertilization (IVF) with frozen–thawed embryo transfer (FET). ET is influenced by various intrinsic and extrinsic factors, such as hormonal fluctuations, age‐related changes, underlying medical conditions, and metabolic factors. However, there are few published studies examining the effect of tamoxifen on endometrial development during IVF. The aim of this study was to evaluate the impact of tamoxifen on endometrial growth in patients undergoing IVF‐FET who experienced a thin endometrium during their previous transfer cycle while undergoing estrogen therapy. This pilot study was conducted at Hazrate Zeinab Hospital, affiliated to Shiraz University of Medical Sciences in Shiraz, Iran, between 2019 and 2021. The study involved three infertile females aged 31–40 years who were referred to our center for IVF‐FET. We recorded the patients' demographic and medical characteristics, the type of infertility, and the cause and duration of infertility. ET was measured using ultrasonography before the treatment began. Patients were then administered tamoxifen at a dosage of 20 mg per day, starting on the second day of their menstrual cycle for a duration of 5 days. On the seventh day of menstruation, a follow‐up transvaginal ultrasonography was performed to assess the ET and evaluate the trilinear pattern. In our study of three patients with a history of inadequate response to high‐dose estrogen, the endometrium improved in two patients and thickened by up to 7 mm, indicating a positive effect of tamoxifen on improving endometrial thickness.
Journals
2025 EN
Sadeghi Mohsen Vakili · Vosough Zeinab · Jahansouz Davoud
ABSTRACT Cold agglutinin‐mediated autoimmune hemolytic anemia, when secondary to viral and bacterial infections or, rarely, malignancy, is called cold agglutinin syndrome. This is the first case in which acute myeloid leukemia (AML) was the underlying cause of this syndrome. Here, we present a 64‐year‐old man with weight loss, jaundice, anemia, and a recent episode of red urine. The blood drawn from the patient clotted swiftly, and then the cold agglutinin test became positive. Bone marrow specimen microscopy revealed monocytic AML. Standard treatment resulted in clinical improvement, although he later faced progression to hyperleukocytosis and liver failure, which led to his death. This case emphasizes the necessity of maintaining a level of suspicion for underlying hematologic malignancies in individuals with secondary cold agglutinin‐mediated hemolytic anemia. This is the first documented case of cold agglutinin syndrome related to AML, contributing to the growing knowledge of the connection between autoimmune hemolytic anemia and hematologic cancers.
Journals
2025 EN
Namaei Ghasemi Sajedeh · Kheradmand Zakieh · Moushekhian Siavash
+1 more
ABSTRACT This study reports a successful apical surgery performed on a maxillary central incisor in a middle‐aged man with a persistent infection following non‐surgical endodontic retreatment. The infection involved both labial and palatal bone perforations. NeoPutty, a new bioactive bioceramic putty available in a premixed format, was used in this case. Its primary components are tricalcium and dicalcium silicate. NeoPutty has demonstrated antibacterial properties and biocompatibility, and has been successfully used in primary molar pulpotomy and indirect pulp therapy. In the present study, it was utilized for root‐end filling for the first time, contributing to a favorable surgical outcome.
Journals
2025 EN
Obeid Pierre J. · SariChmayssem Nouha · Yammine Paolo
+6 more
Electrode material selection and structural designs of electrochemical chips are fundamental parameters in the field of electrochemical sensing. These parameters directly affect sensor conductivity, selectivity, stability, surface area, and overall performance. This article summarizes the most common electrode architectures and commercially available materials currently used in the development of electrochemical sensors, including carbon‐based materials (e.g., boron‐doped diamond, graphite, graphene, glassy carbon, carbon nanotubes, and carbon fibers), metal‐based materials and alloys (e.g., gold, platinum, silver, nickel, and metal oxides), conductive polymers (e.g., polyaniline, polypyrrole, and poly(3,4‐ethylenedioxythiophene)), and redox dyes and mediators (Prussian blue, Meldola blue, etc.). It highlights the advantages of each category and identifies suitable electrode materials for specific target analytes. Finally, this review aims to guide readers in selecting appropriate electrode materials and designs tailored to a specific application.
Journals
2025 EN
Jelodar Zeinab Abedian · Noghani Somayeh
ABSTRACT This research introduces an innovative approach for decorating ceramic surfaces through systematic reformulation of the historic paper marbling process for application in ceramic glaze. Despite as much as marbling has a longstanding history in the paper, textile, and diverse decorative arts, application in ceramics is largely unexamined. In this research, both water‐based and oil‐based marbling formulations, utilizing traditional materials such as tragacanth, eremurus mucilage, gum Arabic, ox‐gall, and linseed oil were developed and optimized for underglaze, overglaze, and colored‐glaze techniques. The experimental process consisted of forming stable floating pigments and adapting designs on size, which were then successfully transferred onto ceramic bisque surfaces. Firing schedules and glaze formulas were methodically adjusted to achieve the preservation of marbled patterns following firing. The findings demonstrate that the enhanced marbling technique facilitates the development of complicated, decorative effects on ceramic substances, thereby addressing earlier restrictions with color control, pattern delicacy, and material compatibility. Among the tested approaches, the underglaze marbling method employing gum Arabic as a binder yielded the most favorable visual quality and overall performance. This cross‐disciplinary development not only enriches the aesthetic potential of ceramic art but also offers a replicable approach to incorporating historic marbling processes into contemporary ceramic technologies. The results yield new knowledge on material properties, process optimization, and innovative potential of traditional processes in contemporary ceramic design.