40 results on '"Bahrami E"'
Search Results
2. S253: THE SHEDDASE DOMAIN OF ADAM10 AUGMENTS THE INTERACTION OF LEUKEMIA CELLS WITH THE BONE MARROW NICHE IN VIVO AS SHOWN BY RECONSTITUTING PDX LEUKEMIA CELLS WITH CRISPR-CAS9-INDUCED KNOCKOUT
- Author
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Schmid, J. P., primary, Bahrami, E., additional, Becker, M., additional, Jayavelu, A. K., additional, Wirth, A.-K., additional, Jurinovic, V., additional, Öllinger, R., additional, Rad, R, additional, Vick, B., additional, Mann, M., additional, Herold, T., additional, and Jeremias, I., additional
- Published
- 2022
- Full Text
- View/download PDF
3. P423: ADAPTING CRISPR CAS9 DROPOUT SCREENS TO IN VIVO PDX MODELS OF ACUTE LEUKEMIAS
- Author
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Ludwig, R., primary, Amend, D., additional, Bahrami, E., additional, and Jeremias, I., additional
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- 2022
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4. ADAM10’s sheddase function augments the interaction of leukemia cells with the bone marrow niche in PDX models in vivo
- Author
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Schmid, JP, additional, Bahrami, E, additional, Becker, M, additional, Jayavelu, AK, additional, Wirth, AK, additional, Jurinovic, V, additional, Öllinger, R, additional, Vick, B, additional, Herold, T, additional, and Jeremias, I, additional
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- 2022
- Full Text
- View/download PDF
5. CerebNet: A fast and reliable deep-learning pipeline for detailed cerebellum sub-segmentation
- Author
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Faber, J., Kügler, D., Bahrami, E., Heinz, L.S., Timmann, D., Ernst, T.M., Deike-Hofmann, K., Klockgether, T., Warrenburg, B.P.C. van de, Gaalen, J. van, Reetz, K., Romanzetti, S., Oz, G., Joers, J.M., Diedrichsen, J., Reuter, M, Faber, J., Kügler, D., Bahrami, E., Heinz, L.S., Timmann, D., Ernst, T.M., Deike-Hofmann, K., Klockgether, T., Warrenburg, B.P.C. van de, Gaalen, J. van, Reetz, K., Romanzetti, S., Oz, G., Joers, J.M., Diedrichsen, J., and Reuter, M
- Abstract
Contains fulltext : 287487.pdf (Publisher’s version ) (Open Access), Quantifying the volume of the cerebellum and its lobes is of profound interest in various neurodegenerative and acquired diseases. Especially for the most common spinocerebellar ataxias (SCA), for which the first antisense oligonculeotide-base gene silencing trial has recently started, there is an urgent need for quantitative, sensitive imaging markers at pre-symptomatic stages for stratification and treatment assessment. This work introduces CerebNet, a fully automated, extensively validated, deep learning method for the lobular segmentation of the cerebellum, including the separation of gray and white matter. For training, validation, and testing, T1-weighted images from 30 participants were manually annotated into cerebellar lobules and vermal sub-segments, as well as cerebellar white matter. CerebNet combines FastSurferCNN, a UNet-based 2.5D segmentation network, with extensive data augmentation, e.g. realistic non-linear deformations to increase the anatomical variety, eliminating additional preprocessing steps, such as spatial normalization or bias field correction. CerebNet demonstrates a high accuracy (on average 0.87 Dice and 1.742mm Robust Hausdorff Distance across all structures) outperforming state-of-the-art approaches. Furthermore, it shows high test-retest reliability (average ICC >0.97 on OASIS and Kirby) as well as high sensitivity to disease effects, including the pre-ataxic stage of spinocerebellar ataxia type 3 (SCA3). CerebNet is compatible with FreeSurfer and FastSurfer and can analyze a 3D volume within seconds on a consumer GPU in an end-to-end fashion, thus providing an efficient and validated solution for assessing cerebellum sub-structure volumes. We make CerebNet available as source-code (https://github.com/Deep-MI/FastSurfer).
- Published
- 2022
6. Vaginal progesterone vs intramuscular 17α‐hydroxyprogesterone caproate for prevention of recurrent spontaneous preterm birth in singleton gestations: systematic review and meta‐analysis of randomized controlled trials
- Author
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Saccone, G., Khalifeh, A., Elimian, A., Bahrami, E., Chaman‐Ara, K., Bahrami, M. A., and Berghella, V.
- Published
- 2017
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7. An Optimality and Feature Geometry Theoretic account of Spirantisation in Bushehri Dialects
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Kord-e Zafaranlu Kambuziya. Aliyeh, Aryaei. Pegah, and Bahrami-e khorshid. Sahar
- Subjects
Computer science ,Feature geometry ,Algorithm - Published
- 2017
8. Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease
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Avitzur, Y, Guo, C, Mastropaolo, LA, Bahrami, E, Chen, H, Zhao, Z, Elkadri, A, Dhillon, S, Murchie, R, Fattouh, R, Huynh, H, Walker, JL, Wales, PW, Cutz, E, Kakuta, Y, Dudley, J, Kammermeier, J, Powrie, F, Shah, N, Walz, C, Nathrath, M, Kotlarz, D, Puchaka, J, Krieger, JR, Racek, T, Kirchner, T, Walters, TD, Brumell, JH, Griffiths, AM, Rezaei, N, Rashtian, P, Najafi, M, Monajemzadeh, M, Pelsue, S, McGovern, DPB, Uhlig, HH, Schadt, E, Klein, C, Snapper, SB, and Muise, AM
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Male ,Candidate gene ,DNA Mutational Analysis ,Apoptosis ,medicine.disease_cause ,Compound heterozygosity ,Severity of Illness Index ,chemistry.chemical_compound ,Exome ,Lymphocytes ,Age of Onset ,1-Phosphatidylinositol 4-Kinase ,Exome sequencing ,Enterocolitis ,Mutation ,Gastroenterology ,Prognosis ,Pedigree ,Phenotype ,Child, Preschool ,Female ,RNA Interference ,medicine.symptom ,Protein Binding ,Signal Transduction ,Heterozygote ,Intestinal Atresia ,Biology ,Transfection ,Article ,Cell Line ,medicine ,Cell Adhesion ,Humans ,Genetic Predisposition to Disease ,Phosphatidylinositol ,Genetic Association Studies ,Severe combined immunodeficiency ,Hepatology ,Infant, Newborn ,Infant ,Proteins ,medicine.disease ,Inflammatory Bowel Diseases ,Enterocytes ,chemistry ,Immunology - Abstract
Background and Aims Very early onset inflammatory bowel diseases (VEOIBD), including infant disorders, are a diverse group of diseases found in children younger than 6 years of age. They have been associated with several gene variants. Our aim was to identify the genes that cause VEOIBD. Methods We performed whole exome sequencing of DNA from 1 infant with severe enterocolitis and her parents. Candidate gene mutations were validated in 40 pediatric patients and functional studies were carried out using intestinal samples and human intestinal cell lines. Results We identified compound heterozygote mutations in the Tetratricopeptide repeat domain 7 (TTC7A) gene in an infant from non-consanguineous parents with severe exfoliative apoptotic enterocolitis; we also detected TTC7A mutations in 2 unrelated families, each with 2 affected siblings. TTC7A interacts with EFR3 homolog B to regulate phosphatidylinositol 4-kinase at the plasma membrane. Functional studies demonstrated that TTC7A is expressed in human enterocytes. The mutations we identified in TTC7A result in either mislocalization or reduced expression of TTC7A. Phosphatidylinositol 4-kinase was found to co-immunoprecipitate with TTC7A; the identified TTC7A mutations reduced this binding. Knockdown of TTC7A in human intestinal-like cell lines reduced their adhesion, increased apoptosis, and decreased production of phosphatidylinositol 4-phosphate. Conclusions In a genetic analysis, we identified loss of function mutations in TTC7A in 5 infants with VEOIBD. Functional studies demonstrated that the mutations cause defects in enterocytes and T cells that lead to severe apoptotic enterocolitis. Defects in the phosphatidylinositol 4-kinase-TTC7A-EFR3 homolog B pathway are involved in the pathogenesis of VEOIBD. © 2014 by the AGA Institute.
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- 2016
9. An Optimality and Feature Geometry Theoretic account of Spirantisation in Bushehri Dialects
- Author
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Aliyeh, Kord-e Zafaranlu Kambuziya., primary, Pegah, Aryaei., additional, and Sahar, Bahrami-e khorshid., additional
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- 2017
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10. Evaluation of the Quality of Services Delivered in Qazvin’s Hospitals to Attract Medical Tourists: Joint Commission International Approach
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Kalhor, R., primary, Moosavi, S., additional, Ramezanpour, M., additional, Molapour, A., additional, Keshavarz, A., additional, Shah Bahrami, E., additional, Azmal, M., additional, and Gharaghieh, F., additional
- Published
- 2016
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11. Prioritizing the Options for Health-care waste Man-agement in Qazvin: Using a Multi-Criteria Decision Making Approach
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Kalhor, R., primary, Kiaei, M., additional, Mohebbifar, R., additional, Shah Bahrami, E., additional, Mafi, L., additional, Kalhor, L., additional, and Azmal, M., additional
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- 2016
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12. Spirituality and spiritual care in Iran: nurses' perceptions and barriers
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Zakaria Kiaei, M., primary, Salehi, A., additional, Moosazadeh Nasrabadi, A., additional, Whitehead, D., additional, Azmal, M., additional, Kalhor, R., additional, and Shah Bahrami, E., additional
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- 2015
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13. Vaginal progesterone vs intramuscular 17α-hydroxyprogesterone caproate for prevention of recurrent spontaneous preterm birth in singleton gestations: systematic review and meta-analysis of randomized controlled trials
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Andrew Elimian, Mohammad Amin Bahrami, Kefayat Chaman-Ara, Elham Bahrami, Adeeb Khalifeh, Vincenzo Berghella, Gabriele Saccone, Saccone, G., Khalifeh, A., Elimian, A., Bahrami, E., Chaman-Ara, K., Bahrami, M. A., and Berghella, V.
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medicine.medical_specialty ,Radiology, Nuclear Medicine and Imaging ,Intensive Care Unit ,ultrasound cervical length ,Injections, Intramuscular ,Drug Administration Schedule ,law.invention ,transvaginal ultrasound ,03 medical and health sciences ,0302 clinical medicine ,Patient Admission ,Randomized controlled trial ,prevention ,law ,Hydroxyprogesterone ,Pregnancy ,17 alpha-Hydroxyprogesterone Caproate ,medicine ,Hydroxyprogesterones ,Humans ,030212 general & internal medicine ,Progesterone ,Randomized Controlled Trials as Topic ,Gynecology ,030219 obstetrics & reproductive medicine ,Radiological and Ultrasound Technology ,business.industry ,Obstetrics ,prematurity ,Obstetrics and Gynecology ,17α-Hydroxyprogesterone ,General Medicine ,Administration, Intravaginal ,Intensive Care Units ,Transvaginal ultrasound ,Reproductive Medicine ,Meta-analysis ,Gestation ,Premature Birth ,Female ,business ,medicine.drug ,Human - Abstract
Objective Randomized controlled trials (RCTs) have recently compared intramuscular 17α-hydroxyprogesterone caproate (17-OHPC) with vaginal progesterone for reducing the risk of spontaneous preterm birth (SPTB) in singleton gestations with prior SPTB. The aim of this systematic review and meta-analysis was to evaluate the efficacy of vaginal progesterone compared with 17-OHPC in prevention of SPTB in singleton gestations with prior SPTB. Methods Searches of electronic databases were performed to identify all RCTs of asymptomatic singleton gestations with prior SPTB that were randomized to prophylactic treatment with either vaginal progesterone (intervention group) or intramuscular 17-OHPC (comparison group). No restrictions for language or geographic location were applied. The primary outcome was SPTB < 34 weeks. Secondary outcomes were SPTB < 37 weeks, < 32 weeks, < 28 weeks and < 24 weeks, maternal adverse drug reaction and neonatal outcomes. The summary measures were reported as relative risk (RR) with 95% CI. Risk of bias for each included study was assessed. Results Three RCTs (680 women) were included. The mean gestational age at randomization was about 16 weeks. Women were given progesterone until 36 weeks or delivery. Regarding vaginal progesterone, one study used 90 mg gel daily, one used 100 mg suppository daily and one used 200 mg suppository daily. All included RCTs used 250 mg intramuscular 17-OHPC weekly in the comparison group. Women who received vaginal progesterone had significantly lower rates of SPTB < 34 weeks (17.5% vs 25.0%; RR, 0.71 (95% CI, 0.53–0.95); low quality of evidence) and < 32 weeks (8.9% vs 14.5%; RR, 0.62 (95% CI, 0.40–0.94); low quality of evidence) compared with women who received 17-OHPC. There were no significant differences in the rates of SPTB < 37 weeks, < 28 weeks and < 24 weeks. The rate of women who reported adverse drug reactions was significantly lower in the vaginal progesterone group compared with the 17-OHPC group (7.1% vs 13.2%; RR, 0.53 (95% CI, 0.31–0.91); very low quality of evidence). Regarding neonatal outcomes, vaginal progesterone was associated with a lower rate of neonatal intensive care unit admission compared with 17-OHPC (18.7% vs 23.5%; RR, 0.63 (95% CI, 0.47–0.83); low quality of evidence). For the comparison of 17-OHPC vs vaginal progesterone, the quality of evidence was downgraded for all outcomes by at least one degree due to imprecision (the optimal information size was not reached) and by at least one degree due to indirectness (different interventions). Conclusions Daily vaginal progesterone (either suppository or gel) started at about 16 weeks' gestation is a reasonable, if not better, alternative to weekly 17-OHPC injection for prevention of SPTB in women with singleton gestations and prior SPTB. However, the quality level of the summary estimates was low or very low as assessed by GRADE, indicating that the true effect may be, or is likely to be, substantially different from the estimate of the effect. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. Comparacion entre la progesterona vaginal y el 17α-hidroxiprogesterona caproato intramuscular para la prevencion del parto pretermino espontaneo recurrente en embarazos con feto unico: revision sistematica y metaanalisis de ensayos controlados aleatorios RESUMEN Objetivo Recientemente se han realizado varios ensayos controlados aleatorios (ECA) que comparaban el caproato de 17α-hidroxiprogesterona (17-OHPC, por sus siglas en ingles) por via intramuscular con la progesterona por via vaginal para la reduccion del riesgo de parto pretermino espontaneo (PPTE) en embarazos con feto unico de gestantes con historial de PPTE. El objetivo de esta revision sistematica y metaanalisis fue evaluar la eficacia de la progesterona vaginal en comparacion con la 17-OHPC en la prevencion de embarazos con feto unico de gestantes con historial de PPTE. Metodos Se realizaron busquedas en bases de datos electronicas para identificar todos los ECA con embarazos de feto unico asintomaticos con historial de PPTE antes de ser asignados al azar a un tratamiento profilactico, ya fuera con progesterona vaginal (grupo de intervencion) o con 17-OHPC intramuscular (grupo de control). No se aplicaron restricciones respecto al idioma o la ubicacion geografica. El resultado primario fue PPTE < 34 semanas. Los resultados secundarios fueron PPTE
- Published
- 2016
14. Diverse potential of secretome from natural killer cells and monocyte-derived macrophages in activating stellate cells.
- Author
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Sauer J, Steixner-Kumar AA, Gabler S, Motyka M, Rippmann JF, Brosa S, Boettner D, Schönberger T, Lempp C, Frodermann V, Simon E, Krenkel O, and Bahrami E
- Subjects
- Humans, Interleukin-13 metabolism, Secretome, Macrophages, Liver Cirrhosis, Killer Cells, Natural metabolism, Kupffer Cells metabolism, Non-alcoholic Fatty Liver Disease pathology
- Abstract
Chronic liver diseases, such as non-alcoholic steatohepatitis (NASH)-induced cirrhosis, are characterized by an increasing accumulation of stressed, damaged, or dying hepatocytes. Hepatocyte damage triggers the activation of resident immune cells, such as Kupffer cells (KC), as well as the recruitment of immune cells from the circulation toward areas of inflammation. After infiltration, monocytes differentiate into monocyte-derived macrophages (MoMF) which are functionally distinct from resident KC. We herein aim to compare the in vitro signatures of polarized macrophages and activated hepatic stellate cells (HSC) with ex vivo -derived disease signatures from human NASH. Furthermore, to shed more light on HSC activation and liver fibrosis progression, we investigate the effects of the secretome from primary human monocytes, macrophages, and NK cells on HSC activation. Interleukin (IL)-4 and IL-13 treatment induced transforming growth factor beta 1 (TGF-β1) secretion by macrophages. However, the supernatant transfer did not induce HSC activation. Interestingly, PMA-activated macrophages showed strong induction of the fibrosis response genes COL10A1 and CTGF , while the supernatant of IL-4/IL-13-treated monocytes induced the upregulation of COL3A1 in HSC. The supernatant of PMA-activated NK cells had the strongest effect on COL10A1 induction in HSC, while IL-15-stimulated NK cells reduced the expression of COL1A1 and CTGF . These data indicate that other factors, aside from the well-known cytokines and chemokines, might potentially be stronger contributors to the activation of HSCs and induction of a fibrotic response, indicating a more diverse and complex role of monocytes, macrophages, and NK cells in liver fibrosis progression., Competing Interests: Author MM is employed by the company Ardigen. Authors JS, AS-K, SG, JR, SB, DB, TS, CL, VF, ES, OK, and EB are employed by the company Boehringer Ingelheim., (Copyright © 2024 Sauer, Steixner-Kumar, Gabler, Motyka, Rippmann, Brosa, Boettner, Schönberger, Lempp, Frodermann, Simon, Krenkel and Bahrami.)
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- 2024
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15. Cutaneous Adverse Drug Reactions: Regional Experience of a Global Challenge.
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Bushehri B, Mokhtarpoor A, Bahrami E, and Ghorani-Azam A
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- Humans, Male, Female, Anticonvulsants adverse effects, Retrospective Studies, Anti-Bacterial Agents adverse effects, Stevens-Johnson Syndrome etiology, Drug Eruptions diagnosis, Drug Eruptions epidemiology, Drug Eruptions etiology, Exanthema chemically induced, Exanthema diagnosis, Exanthema epidemiology
- Abstract
Background: Adverse drug reactions (ADR) are considered any harmful and unintended side effects associated with the use of a drug at the usual therapeutic dose, in which skin is involved in most cases. Therefore, the availability of epidemiological information on reactions, reaction patterns, and their causative drugs can be helpful in timely diagnosis and necessary measures, such as caution in prescribing causative drugs to prevent these types of reactions., Methods: In this retrospective descriptive study, the archived files of patients with dermatoses due to ADR referred to Taleghani University Hospital, Urmia, Iran, during 2015-2020 were studied. Patterns and frequency of skin reactions, demographic data, and the frequency of chronic comorbidities were identified., Results: A total of 50 patients with drug-induced skin rash were found, of which 14 were male (28%) and 36 were female (72%). Skin rashes were most frequently found in patients aged 31-40 years. In 76% of patients, there was at least one chronic underlying disease. The most common reaction pattern was maculopapular rash (44%), and the most common causative drugs were antiepileptic drugs (34%) and antibiotics (22%). Mortality was found in 4 cases, which was due to antibiotics and antiepileptic drugs that caused toxic SJS/TEN and erythroderma. The hospital stays were highest in SJS and lowest in a maculopapular rash., Conclusion: Knowledge about the epidemiology and the frequency of adverse drug reactions may be helpful in increasing the awareness of physicians for correct and rational drug prescriptions, which can reduce unnecessary hospital referrals and treatment costs., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)
- Published
- 2024
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16. An optimized protocol for isolation of hepatic leukocytes retrieved from murine and NASH liver biopsies.
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Bahrami E, Geiger T, Steixner-Kumar AA, Santacruz D, Viollet C, Dick A, Roth Y, Schlingeloff P, Schmidberger J, Haenle M, Kratzer W, Kitt K, Neubauer H, Simon E, Krenkel O, and Werner M
- Subjects
- Humans, Mice, Animals, Liver Cirrhosis pathology, Biopsy, Non-alcoholic Fatty Liver Disease pathology, Liver Neoplasms
- Abstract
Immune dysregulation and inflammation by hepatic-resident leukocytes is considered a key step in disease progression of non-alcoholic fatty liver disease and non-alcoholic steatohepatitis toward cirrhosis and hepatocellular carcinoma. Here, we provide a protocol for isolation and characterization of liver-resident immune cells from fine-needle biopsies obtained from a rodent model and humans. We describe steps for isolating leukocytes, cell sorting, and RNA extraction and sequencing. We then detail procedures for low-input mRNA sequencing analyses., Competing Interests: Declaration of interests The authors declare no competing interests., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)
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- 2023
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17. Oral health knowledge, attitude, and performance of teachers and healthcare workers in special schools for the disabled children in Isfahan.
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Nilchian F, Ataie Z, and Bahrami E
- Abstract
Oral health is an important aspect of general health, and is of great importance, especially in disabled children. A school is an ideal place for the implementation of preventive programs. Considering the significance of the prevention of dental caries and periodontal disease in disabled children, and the important role of teachers in the oral health promotion of students, this study aimed to assess the oral health knowledge, attitude, and performance of teachers and healthcare workers in special schools for the disabled children in Isfahan. This descriptive-analytical study evaluated the oral health knowledge, attitude, and performance of 172 teachers and healthcare workers of special schools for disabled children in Isfahan using a questionnaire. The participants were selected using census sampling. Quantitative and qualitative data were analyzed using SPSS via the Chi-square test, t -test, and Pearson's correlation coefficient at P < 0.05 level of significance. The mean score of knowledge and attitude of teachers was 72.2% and 80.5%, respectively. The mean score of knowledge of healthcare workers was significantly higher than that of teachers ( P = 0.007). Age had no significant correlation with the knowledge score ( P = 0.41) but was significantly correlated with the attitude score ( P = 0.01). Work experience had a significant correlation with the knowledge ( P = 0.02) and attitude ( P = 0.005) scores. In addition, the educational level had a significant correlation with the knowledge ( P < 0.001) and attitude ( P = 0.007) scores. The findings of this research showed that work experience had a significant correlation with the knowledge and attitude scores, which can be due to more contact of teachers with longer work experience with disabled children and their higher perception of hygienic needs and problems of these children., Competing Interests: There are no conflicts of interest., (Copyright: © 2023 Journal of Education and Health Promotion.)
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- 2023
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18. Combined proteomics and CRISPR‒Cas9 screens in PDX identify ADAM10 as essential for leukemia in vivo.
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Bahrami E, Schmid JP, Jurinovic V, Becker M, Wirth AK, Ludwig R, Kreissig S, Duque Angel TV, Amend D, Hunt K, Öllinger R, Rad R, Frenz JM, Solovey M, Ziemann F, Mann M, Vick B, Wichmann C, Herold T, Jayavelu AK, and Jeremias I
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- Humans, Mice, Animals, ADAM10 Protein genetics, ADAM10 Protein metabolism, CRISPR-Cas Systems, Membrane Proteins genetics, Membrane Proteins metabolism, Disease Models, Animal, Tumor Microenvironment, Amyloid Precursor Protein Secretases genetics, Amyloid Precursor Protein Secretases metabolism, Proteomics, Leukemia genetics
- Abstract
Background: Acute leukemias represent deadly malignancies that require better treatment. As a challenge, treatment is counteracted by a microenvironment protecting dormant leukemia stem cells., Methods: To identify responsible surface proteins, we performed deep proteome profiling on minute numbers of dormant patient-derived xenograft (PDX) leukemia stem cells isolated from mice. Candidates were functionally screened by establishing a comprehensive CRISPR‒Cas9 pipeline in PDX models in vivo., Results: A disintegrin and metalloproteinase domain-containing protein 10 (ADAM10) was identified as an essential vulnerability required for the survival and growth of different types of acute leukemias in vivo, and reconstitution assays in PDX models confirmed the relevance of its sheddase activity. Of translational importance, molecular or pharmacological targeting of ADAM10 reduced PDX leukemia burden, cell homing to the murine bone marrow and stem cell frequency, and increased leukemia response to conventional chemotherapy in vivo., Conclusions: These findings identify ADAM10 as an attractive therapeutic target for the future treatment of acute leukemias., (© 2023. The Author(s).)
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- 2023
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19. WT1 and DNMT3A play essential roles in the growth of certain patient AML cells in mice.
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Ghalandary M, Gao Y, Amend D, Kutkaite G, Vick B, Spiekermann K, Rothenberg-Thurley M, Metzeler KH, Marcinek A, Subklewe M, Menden MP, Jurinovic V, Bahrami E, and Jeremias I
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- Mice, Animals, DNA Methyltransferase 3A, Mutation, WT1 Proteins genetics, DNA (Cytosine-5-)-Methyltransferases genetics, Leukemia, Myeloid, Acute
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- 2023
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20. Cord Herniation through the Site of Undiagnosed Thoracic Dermoid Tumour during Spinal Anaesthesia; Report of a Case and Describing Ways to Avoid.
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Parvaresh M, Bahrami E, Ahmadi S, Fattahi A, and Farid A
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- Pregnancy, Humans, Female, Adult, Cesarean Section, Thoracic Vertebrae pathology, Thoracic Vertebrae surgery, Spinal Puncture, Hernia diagnosis, Hernia etiology, Hernia pathology, Magnetic Resonance Imaging, Anesthesia, Spinal, Dermoid Cyst diagnosis, Dermoid Cyst surgery, Dermoid Cyst pathology, Thoracic Neoplasms pathology
- Abstract
Spinal anaesthesia (SA) is one of the most prevalent types of anaesthetic procedures. There are very few reports of cord herniation through the site of spinal canal stenosis due to tumour. A 33-year-old female presented with acute paraparesis after spinal anaesthesia for caesarean section. Magnetic resonance imaging (MRI) revealed an intradural mass from posterior of T6 to T8-T9 interface. We operated the patient and after laminectomy of T6 to T9, dermoid tumour containing hairs was totally resected and cord was completely decompressed. After 6 months, the patient is without any neurological deficit. Puncturing the dura with cerebrospinal fluid (CSF) in the presence of an extramedullary mass could cause cord herniation through the blockade. In these cases, awareness about related signs even in absence of symptoms or complaints could help us to prevent post-SA neurological deficit.
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- 2023
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21. CerebNet: A fast and reliable deep-learning pipeline for detailed cerebellum sub-segmentation.
- Author
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Faber J, Kügler D, Bahrami E, Heinz LS, Timmann D, Ernst TM, Deike-Hofmann K, Klockgether T, van de Warrenburg B, van Gaalen J, Reetz K, Romanzetti S, Oz G, Joers JM, Diedrichsen J, and Reuter M
- Subjects
- Humans, Magnetic Resonance Imaging methods, Reproducibility of Results, Cerebellum diagnostic imaging, Image Processing, Computer-Assisted methods, Deep Learning
- Abstract
Quantifying the volume of the cerebellum and its lobes is of profound interest in various neurodegenerative and acquired diseases. Especially for the most common spinocerebellar ataxias (SCA), for which the first antisense oligonculeotide-base gene silencing trial has recently started, there is an urgent need for quantitative, sensitive imaging markers at pre-symptomatic stages for stratification and treatment assessment. This work introduces CerebNet, a fully automated, extensively validated, deep learning method for the lobular segmentation of the cerebellum, including the separation of gray and white matter. For training, validation, and testing, T1-weighted images from 30 participants were manually annotated into cerebellar lobules and vermal sub-segments, as well as cerebellar white matter. CerebNet combines FastSurferCNN, a UNet-based 2.5D segmentation network, with extensive data augmentation, e.g. realistic non-linear deformations to increase the anatomical variety, eliminating additional preprocessing steps, such as spatial normalization or bias field correction. CerebNet demonstrates a high accuracy (on average 0.87 Dice and 1.742mm Robust Hausdorff Distance across all structures) outperforming state-of-the-art approaches. Furthermore, it shows high test-retest reliability (average ICC >0.97 on OASIS and Kirby) as well as high sensitivity to disease effects, including the pre-ataxic stage of spinocerebellar ataxia type 3 (SCA3). CerebNet is compatible with FreeSurfer and FastSurfer and can analyze a 3D volume within seconds on a consumer GPU in an end-to-end fashion, thus providing an efficient and validated solution for assessing cerebellum sub-structure volumes. We make CerebNet available as source-code (https://github.com/Deep-MI/FastSurfer)., (Copyright © 2022 The Author(s). Published by Elsevier Inc. All rights reserved.)
- Published
- 2022
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22. In vivo PDX CRISPR/Cas9 screens reveal mutual therapeutic targets to overcome heterogeneous acquired chemo-resistance.
- Author
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Wirth AK, Wange L, Vosberg S, Henrich KO, Rausch C, Özdemir E, Zeller CM, Richter D, Feuchtinger T, Kaller M, Hermeking H, Greif PA, Senft D, Jurinovic V, Bahrami E, Jayavelu AK, Westermann F, Mann M, Enard W, Herold T, and Jeremias I
- Subjects
- Humans, Mice, Animals, CRISPR-Cas Systems, Disease Models, Animal, Transcriptome, Xenograft Model Antitumor Assays, Antineoplastic Agents therapeutic use, Neoplasms genetics
- Abstract
Resistance towards cancer treatment represents a major clinical obstacle, preventing cure of cancer patients. To gain mechanistic insights, we developed a model for acquired resistance to chemotherapy by treating mice carrying patient derived xenografts (PDX) of acute lymphoblastic leukemia with widely-used cytotoxic drugs for 18 consecutive weeks. In two distinct PDX samples, tumors initially responded to treatment, until stable disease and eventually tumor re-growth evolved under therapy, at highly similar kinetics between replicate mice. Notably, replicate tumors developed different mutations in TP53 and individual sets of chromosomal alterations, suggesting independent parallel clonal evolution rather than selection, driven by a combination of stochastic and deterministic processes. Transcriptome and proteome showed shared dysregulations between replicate tumors providing putative targets to overcome resistance. In vivo CRISPR/Cas9 dropout screens in PDX revealed broad dependency on BCL2, BRIP1 and COPS2. Accordingly, venetoclax re-sensitized derivative tumors towards chemotherapy, despite genomic heterogeneity, demonstrating direct translatability of the approach. Hence, despite the presence of multiple resistance-associated genomic alterations, effective rescue treatment for polychemotherapy-resistant tumors can be identified using functional testing in preclinical models., (© 2022. The Author(s).)
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- 2022
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23. Dermatologic problems associated with personal protective equipment in health-care workers managing COVID-19 patients.
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Alizadeh N, Darjani A, Rafiei R, Gharaeinejad K, Eftekhari H, Bahrami E, and Rafiei E
- Abstract
Background: The safety of health-care workers (HCWs) during the COVID-19 pandemic is a major concern worldwide. Dermatological problems due to personal protective equipment are annoying issues. We aimed to evaluate dermatological adverse events following the use of these protections in HCWs managing COVID-19 patients., Materials and Methods: One hundred and fifty-six workers managing COVID-19 patients were enrolled in this cross-sectional study. We conducted face-to-face interviews to collect the data and focused mainly on protection type and mucocutaneous symptoms with new onset or exaggeration after this equipment., Results: Dermatological problems following protective equipment usage occurred mainly during the 1
st week (65.4%). The most common site of skin involvement was the nose (82.7%) and the most frequent visible complaints were the pressure effect and erythema on the nose in 80.8% and 57.7% of cases, respectively. There was a significant association between mask type and facial skin problems ( P < 0.001). The main symptoms were itching (21.8% scalp, 39.1% face and body) and burning sensation (14.1% scalp, 23.7% face and body). Skin desquamation (37.2%) and dorsal hand dermatitis (41.66%) were significantly more frequent in atopic participants ( P = 0.02 and P = 0.01, respectively). Hand involvement was significantly associated with frequency of hand washing (odds ratio = 1.97, 95% confidence interval = 1.04-3.74, P = 0.03)., Conclusion: We found that skin problems related to protective equipment were common and frequently located on the face mainly due to facial masks. These complications should be prevented by proper use of this equipment., Competing Interests: There are no conflicts of interest., (Copyright: © 2022 Journal of Research in Medical Sciences.)- Published
- 2022
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24. Vestibular Assessment in Patients with Persistent Symptoms of Mild Traumatic Brain Injury.
- Author
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Jafarzadeh S, Pourbakht A, and Bahrami E
- Abstract
Aim: The estimated worldwide incidence of TBI is 10 million cases per year. Dizziness and imbalance are two common symptoms in mild TBI (mTBI). In about 10-15% of TBI patients, these symptoms remain for a long time and may show no recovery. These persistent symptoms may relate to different factors including vestibular abnormalities. The aim of this study is a vestibular assessment of patients with persistent symptoms of mTBI by different tests including computerized dynamic posturography., Materials and Methods: 21 patients with mTBI evaluated in this study. Patients were civilians with persistent symptoms. TBI did cause by blunt force trauma (mainly from falling) in the past 6 months. They had normal neurologic and musculoskeletal assessments and no temporal bone fracture. Several auditory and vestibular evaluations were performed for each patient. They included: case history, otoscopy, pure tone and speech audiometry, tympanometry, vestibular bedside examination (spontaneous nystagmus, gaze, saccade, pursuit, Dix-Hallpike maneuver, side-lying maneuver, roll, and Romberg test), cervical Vestibular Myogenic Evoked Potential (c-VEMP), Computerized Dynamic Posturography (CDP) and Dizziness Handicap Inventory (DHI)., Results: Patients showed hearing loss in 10 (47.6%) and tinnitus in 4 (19.0%) cases. In ocular motor tests, patients had the most abnormal results in the pursuit test. 6 patients also had Benign Paroxysmal Positional Vertigo (BPPV) in the posterior canal. c-VEMP showed abnormal saccular function in 14 patients. In CDP, the composite scores were decreased relative to normal populations., Conclusion: vestibular tests showed abnormal results in most patients. Vestibular abnormality could relate to persisting symptoms of mTBI patients., Competing Interests: Conflict of interestThe authors had no conflict of interest., (© Association of Otolaryngologists of India 2020.)
- Published
- 2022
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25. Histiocytic Sarcoma Involving Cervical Vertebra: A Case Report and Review of the Literature.
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Bahrami E, Najafi M, Jahanbakhshi A, Hatam J, Molanaei S, Ciammella P, and Cozzi S
- Abstract
Histiocytic sarcoma (HS) is a rare neoplasm composed of cells with immunohistochemical characteristics of mature histiocytes. It can be disseminated or localized and usually involves the skin, spleen, and gastrointestinal tract. Primary involvement of the vertebral column is extremely rare. We report a 29-year-old female who presented with neck pain and had a destructive 35*43*48 mm lesion in C2 with a paravertebral extension. The initial biopsy did not lead to the correct diagnosis. She later developed dysphagia, and the anterior approach was used for tumor decompression. The diagnosis of cervical histiocytic sarcoma was made, and she underwent radiotherapy. The follow-up MRI showed a marked response to radiotherapy. Here, we report the first case of cervical HS, review all cases of vertebral HS, compare patients' characteristics and clinical courses, and discuss diagnostic nuances and treatment options.
- Published
- 2022
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26. The Psychometric Properties of the Measure of Adolescent Relationship Harassment and Abuse (MARSHA) With a Nationally Representative Sample of U.S. Youth.
- Author
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Rothman EF, Cuevas CA, Mumford EA, Bahrami E, and Taylor BG
- Subjects
- Adolescent, Adult, Child, Humans, Psychometrics, Reproducibility of Results, Young Adult, Adolescent Behavior, Bullying, Crime Victims psychology, Intimate Partner Violence psychology
- Abstract
This article describes a new instrument that assesses adolescent dating abuse (ADA) victimization and perpetration. The Measure of Adolescent Relationship Harassment and Abuse (MARSHA) is a comprehensive instrument that includes items on physical, sexual, and psychological ADA, as well as cyber dating abuse, social control, and invasion of privacy. Data for this study came from a population-based, nationally representative sample of adolescents ages 11 to 21 years old ( N = 1,257). Exploratory factor analysis was conducted for the victimization and perpetration versions of the MARSHA, and convergent and divergent validity were assessed using the Conflict in Adolescent Dating Relationships Inventory (CADRI) and the juvenile victimization questionnaire (JVQ), respectively. Results suggest that the MARSHA has good reliability and validity, and that each subscale had good internal consistency. The authors propose that the MARSHA may be a strong alternative to the CADRI or the conflict tactics scale (CTS) because it reflects contemporary forms of abuse, such as online harassment and pressure to send nude selfies, and the nonconsensual dissemination of sexually explicit images.
- Published
- 2022
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27. Association between TBXT rs2305089 polymorphism and chordoma in Iranian patients identified by a developed T-ARMS-PCR assay.
- Author
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Jalessi M, Gholami MS, Razmara E, Hassanzadeh S, Sadeghipour A, Jahanbakhshi A, Tabibkhooei A, Bahrami E, and Falah M
- Subjects
- Adolescent, Adult, Aged, Aged, 80 and over, Biomarkers, Tumor, Bone Neoplasms epidemiology, Bone Neoplasms genetics, Case-Control Studies, Female, Humans, Male, Middle Aged, Polymerase Chain Reaction, Young Adult, Chordoma epidemiology, Chordoma genetics, Fetal Proteins genetics, Genetic Predisposition to Disease genetics, Polymorphism, Single Nucleotide genetics, T-Box Domain Proteins genetics
- Abstract
Background: Chordoma is a locally aggressive bone tumor with a high capability of recurrence. Because chordoma often occurs at critical locations next to neurovascular structures, there is an urgent need to introduce validated biomarkers. T-box transcription factor T (TBXT; OMIM: 601397) plays an important role in the pathogenesis and survival of chordoma cells., Methods: Herein, we aimed to show whether rs2305089 polymorphism is correlated with chordoma in the Iranian population. In order to detect rs2305089, tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) was used. In total, 19 chordoma patients and 108 normal healthy individuals were recruited and screened using T-ARMS-PCR. The results were subsequently validated by Sanger sequencing., Results: The genotype distributions and allele frequencies were significantly different among the patient and healthy groups (p-value <0.05). The A allele of rs2305089 showed a significant positive association with chordoma risk (p-value <0.05). DNA sequencing verified the T-ARMS-PCR results as well. This study demonstrated the association between TBXT rs2305089 and chordoma in an Iranian population using a simple, accurate, and cost-effective T-ARMS-PCR assay., Conclusions: Our results were in line with those of previous studies showing that TBXT rs2305089 is associated with chordoma development. We also developed an efficient T-ARMS-PCR assay to determine the genotype of rs2305089., (© 2021 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC.)
- Published
- 2022
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28. Clinical Presentation of Foramen Magnum Meningioma Masqueraded by Carpal Tunnel Syndrome: A Report of 2 Cases.
- Author
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Bahrami E, Parvaresh M, Fattahi A, Farzan A, and Kazemi F
- Subjects
- Cervical Vertebrae, Foramen Magnum diagnostic imaging, Foramen Magnum pathology, Humans, Carpal Tunnel Syndrome diagnostic imaging, Carpal Tunnel Syndrome etiology, Meningeal Neoplasms complications, Meningeal Neoplasms diagnostic imaging, Meningeal Neoplasms pathology, Meningioma complications, Meningioma diagnostic imaging, Meningioma pathology
- Abstract
Case: Meningioma is the second most common intracranial tumor. We present 2 cases of foramen magnum meningioma (FMM) that was first operated on with the diagnosis of carpal tunnel syndrome (CTS)., Conclusion: During the diagnostic assessment of CTS and recalcitrant CTS, a more proximal etiology of nerve compression should be considered, including FMM. If a more proximal cause of nerve dysfunction is suspected, cervical spine magnetic resonance imaging may be beneficial to evaluate a patient for spinal etiology., Competing Interests: Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJSCC/B715)., (Copyright © 2021 by The Journal of Bone and Joint Surgery, Incorporated.)
- Published
- 2021
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29. Effect of Lamotrigine on Ouabain-Induced Arrhythmia in Isolated Atria of Guinea Pigs.
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Mirsalehi M, Malihi G, Bahrami E, Akbarnejad Z, and Ahmadi S
- Abstract
Background: Lamotrigine (LTG) is an antiepileptic drug used in the treatment of seizures, mood disorders, and cognitive problems. The cardiac effects of LTG, such as LTG toxicity and SUEDP, have been studied. This is an in vitro study examining the effect of LTG on isolated atria of guinea pigs. Methods: The atria of 21 male Guinea pigs were isolated and stabilized in Krebs-solution and physiologic condition. The rhythm of contraction, contractile force, and heart rate were recorded. In 7 atria, LTG at the doses of 2, 4, 8, and 16 mg/mL were added and the contractile forces and heart rates were recorded and compared together. In the next step, in 14 atria, 8 were pretreated with LTG, and 6 without pretreatment were exposed to ouabain, and the times of the onset of effect, arrhythmia, and asystole were recorded. The statistical comparisons were made by using Student's t test and repeated measure analysis of variance followed by the Bonferroni method. Results: Lamotrigine (4, 8, and 16 mg/mL) significantly decreased the heart rate and contractile force of the isolated guinea pigs' atria (P <.001). Pretreatment with LTG significantly increased the mean time of onset of the effect of ouabain, the onset of ouabain-induced arrhythmia, and time of ouabain-induced asystole (P <.001). Conclusion: LTG reduces the heart rate and contractile force, and also inhibit ouabain induced-arrhythmia of the isolated atria of guinea pigs., Competing Interests: Conflicts of Interest: None declared, (© 2021 Iran University of Medical Sciences.)
- Published
- 2021
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30. Flow diverter-coil technique for endovascular treatment of complex wide neck brain aneurysms, Technical point.
- Author
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Ghorbani M, Hejazian E, Bahrami E, Mortazavi A, Bahrami R, and Farnoush N
- Abstract
Background: Treatment of complex wide neck brain aneurysms is a challenging era in neurosurgery. Both surgical and endovascular therapies are considered for treatment of them. In endovascular, there are different ways such as trapping, coiling, stent and balloon assisted coiling. In this study, we use flow-diverter devices to create new vascular lumen and then coiling the aneurysm sac for three patients., Methods: We describe three cases with complex cerebral aneurysm who were treated successfully by flow diverter-coil technique and point to technical nuances., Results: In our patients, wide neck aneurysms, two in distal part of ICA (internal carotid artery) and other in basilar tip. We use flow-diverter-coil technique successfully. On the follow-up, aneurysms are treated completely without any complications., Conclusion: We think flow diverter devices adjunct to coiling is a useful way for the treatment of complex wide neck cerebral aneurysms., (Copyright © 2020, Babol University of Medical Sciences.)
- Published
- 2021
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31. An integrative gene network-based approach to uncover the cellular and molecular infrastructures of schizophrenia.
- Author
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Bozorgmehr A, Sadeghi B, Tabatabaei Zavari ES, Bahrami E, Zamani F, and Shahbazi A
- Subjects
- Genome-Wide Association Study, Humans, Biomarkers analysis, Gene Expression Regulation, Gene Regulatory Networks, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Schizophrenia genetics
- Abstract
Aims: High phenotypic and endophenotypic heritability of schizophrenia indicates substantial involvement of genetic elements in the occurrence of this disorder. Multiplicity of hypotheses about the genetic basis of schizophrenia pathogenesis suggests that there is still no integrated image from cellular and molecular infrastructure of this disorder., Materials and Methods: Here, we aimed to gain an integrated insight into the genetic basis of schizophrenia through gene set enrichment and network analysis to find the most important developmental stages/brain regions, chromosomal locations and metabolic pathways involved in the pathogenesis of schizophrenia. We investigated major mental disorders whose genetic bases are significantly overlapping with the schizophrenia gene set., Key Findings: Enrichment analyses uncovered 60 developmental stages/brain regions, 21 chromosomal hotspots and 16 pathways which are significantly associated with the found gene set. Our results demonstrated early mid-fetal/cortex as the most prominent developmental stage/brain region, chr16q22 as the most significant cytoband and the neuroactive ligand-receptor interaction as the most central pathway associated with schizophrenia. Further analyses revealed that autistic disorder has the most shared genes with schizophrenia. Moreover, mitogen-activated protein kinase-3 (MAPK3), calcium voltage-gated channel subunit alpha1 C (CACNA1C), solute carrier family 6 member 4 (SLC6A4) and 5-hydroxytryptamine receptor 2A (HTR2A) genes are the most central genes in the pathogenesis of schizophrenia., Significance: In addition to summarizing what has been found on schizophrenia-associated genes in an integrative holistic framework, our results may help identify principle schizophrenia-associated cellular and molecular infrastructures, and provide support for further investigation on potential diagnostic and therapeutic biomarkers for schizophrenia., (Copyright © 2020. Published by Elsevier Inc.)
- Published
- 2020
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32. An Experience with Frame-Based Stereotactic Biopsy of Posterior Fossa Lesions via Transcerebellar Route.
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Bahrami E, Parvaresh M, Bahrami M, and Fattahi A
- Subjects
- Adolescent, Adult, Aged, Case-Control Studies, Child, Cranial Fossa, Posterior, Equipment Design, Female, Humans, Image-Guided Biopsy instrumentation, Magnetic Resonance Imaging, Male, Middle Aged, Prospective Studies, Young Adult, Brain Diseases pathology, Brain Stem pathology, Cerebellum pathology, Stereotaxic Techniques instrumentation
- Abstract
Background: Tissue diagnosis for lesions in the posterior fossa, such as the brainstem, cerebellar peduncle, and cerebellum, is an important determinant of the next treatment option. Herein, we present our 10-year experience with magnetic resonance imaging (MRI)-guided frame-based stereotactic biopsy for 39 patients with posterior fossa lesions, the largest case series in this matter., Methods: We performed a retrospective cross-sectional study on all patients with posterior fossa lesion admitted to 2 referral centers between 2006 and 2016. We used Leksell Frame G for stereotactic biopsy of all patients. MRI systems of both hospitals were 1.5 T., Results: We performed analysis on the 39 cases (21 men and 18 women). Age of the patients ranged between 9 and 73 years (mean, 35.4 ± 15.7 years). Localization success rate was 100%. For 38 patients (97.4%), tissue sample size was enough for tissue diagnosis. For 1 case, it was insufficient and nondiagnostic. In this series, we had no surgery-related complications., Conclusions: We present the largest reported series of MRI-guided frame-based stereotactic biopsy of the posterior fossa lesions via a transcerebellar route. We prefer oblique positioning of the frame on the skull and use a transcerebellar route to reduce surgical complications and achieve a greater localization success rate., (Copyright © 2020 Elsevier Inc. All rights reserved.)
- Published
- 2020
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33. Calcified brain metastatic adenocarcinoma: A case report and review of the literature.
- Author
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Bahrami E, Taheri M, and Benam M
- Subjects
- Adenocarcinoma diagnostic imaging, Adenocarcinoma surgery, Adult, Brain Neoplasms diagnostic imaging, Brain Neoplasms surgery, Calcinosis diagnostic imaging, Calcinosis surgery, Contrast Media, Diagnosis, Differential, Female, Humans, Magnetic Resonance Imaging, Tomography, X-Ray Computed, Adenocarcinoma secondary, Brain Neoplasms secondary, Calcinosis pathology, Colonic Neoplasms pathology
- Abstract
Introduction: Calcification in brain metastasis occurs rarely so it is reported in approximately 1% of surgical and 6.6% of autopsy specimens. Here we report a new case of brain metastasis with calcification., Case Presentation: A 44-year-old woman presented with a generalized tonic-clonic seizure with no neurological deficit on physical examination. Brain imaging demonstrated a hyperdense lesion on computed tomography scan and hyposignal and rim enhancement on T1, T2 and T1 with gadolinium injection sequence images in the right parieto-occipital lobe. Intraoperatively, there was a well-defined solid homogenous calcified mass within brain parenchyma. The lesion that resembled a meningioma was totally resected. The histopathological examination revealed metastatic adenocarcinoma., Conclusion: Metastatic brain lesions should be in the differential diagnosis of a solitary calcified brain mass, although it occurs rarely. It is important to differentiate it radiologically from intralesional haemorrhage.
- Published
- 2019
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34. Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.
- Author
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Li Y, Führer M, Bahrami E, Socha P, Klaudel-Dreszler M, Bouzidi A, Liu Y, Lehle AS, Magg T, Hollizeck S, Rohlfs M, Conca R, Field M, Warner N, Mordechai S, Shteyer E, Turner D, Boukari R, Belbouab R, Walz C, Gaidt MM, Hornung V, Baumann B, Pannicke U, Al Idrissi E, Ali Alghamdi H, Sepulveda FE, Gil M, de Saint Basile G, Hönig M, Koletzko S, Muise AM, Snapper SB, Schwarz K, Klein C, and Kotlarz D
- Subjects
- B-Lymphocytes immunology, B-Lymphocytes pathology, Epithelial Cells immunology, Epithelial Cells pathology, Female, HCT116 Cells, HEK293 Cells, Humans, Male, Mutation, NF-kappa B genetics, NF-kappa B immunology, T-Lymphocytes immunology, T-Lymphocytes pathology, Cell Differentiation genetics, Cell Differentiation immunology, Immunity, Mucosal genetics, Inflammatory Bowel Diseases genetics, Inflammatory Bowel Diseases immunology, Inflammatory Bowel Diseases pathology, Intestinal Mucosa immunology, Intestinal Mucosa pathology, Receptor-Interacting Protein Serine-Threonine Kinases deficiency, Receptor-Interacting Protein Serine-Threonine Kinases immunology, Severe Combined Immunodeficiency genetics, Severe Combined Immunodeficiency immunology, Severe Combined Immunodeficiency pathology
- Abstract
Receptor-interacting serine/threonine-protein kinase 1 (RIPK1) is a critical regulator of cell death and inflammation, but its relevance for human disease pathogenesis remains elusive. Studies of monogenic disorders might provide critical insights into disease mechanisms and therapeutic targeting of RIPK1 for common diseases. Here, we report on eight patients from six unrelated pedigrees with biallelic loss-of-function mutations in RIPK1 presenting with primary immunodeficiency and/or intestinal inflammation. Mutations in RIPK1 were associated with reduced NF-κB activity, defective differentiation of T and B cells, increased inflammasome activity, and impaired response to TNFR1-mediated cell death in intestinal epithelial cells. The characterization of RIPK1-deficient patients highlights the essential role of RIPK1 in controlling human immune and intestinal homeostasis, and might have critical implications for therapies targeting RIPK1., Competing Interests: The authors declare no conflict of interest.
- Published
- 2019
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35. Effect of Early Vestibular Rehabilitation on Vertigo and Unsteadiness in Patients with Acute and Sub-Acute Head Trauma.
- Author
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Jafarzadeh S, Pourbakht A, Bahrami E, Jalaie S, and Bayat A
- Abstract
Introduction: Vestibular rehabilitation is a treatment option for the management of vertigo and unsteadiness, which are very common in head trauma patients and more challenging in the early months after trauma. This study evaluated the effectiveness of a vestibular rehabilitation program in the recovery of acute and sub-acute head trauma patients. The goal of this study was evaluation of the effect of early vestibular rehabilitation on patients with acute and sub-acute head trauma., Materials and Methods: This study was performed in 20 head trauma patients with vertigo and unsteadiness. The patients were randomly divided into two groups: one group received medical therapy (Betaserc) and the other received rehabilitation and medical therapy. An individualized vestibular rehabilitation program was designed that was then revised and verified by a joint committee of vestibular rehabilitation groups. The effectiveness of interventions was measured using the Dizziness Handicap Inventory (DHI) by comparing the results before and after therapy., Results: The physical conditions and DHI scores of patients in both groups were similar at baseline. After 1 month of rehabilitation, patients receiving vestibular rehabilitation and medication showed greater progress than patients receiving medication only (P=0.000)., Conclusion: Vestibular rehabilitation can aid in the recovery from vertigo and increase the stability of head trauma patients. Simultaneous treatment with medicine and vestibular rehabilitation exercises can result in quicker and better therapeutic effects.
- Published
- 2018
36. Cervicomedullary Ganglioglioma in a Child - A Case Report.
- Author
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Bahrami E, Taheri M, and Ebrahimniya F
- Subjects
- Child, Child, Preschool, Humans, Magnetic Resonance Imaging, Male, Brain Neoplasms diagnostic imaging, Brain Neoplasms surgery, Ganglioglioma diagnostic imaging, Ganglioglioma surgery
- Abstract
Ganglioglioma is a benign slow-growing neoplasm that most frequently occurs at the supratentorial region. Nevertheless, there are occasional reports of ganglioglioma occurring in the brainstem and spinal cord. Here we report a rare case of the craniocervical ganglioglioma. A 3.5-year-old male, presented with severe progressive quadriparesis, gait disturbance, and sphincter deficit. Physical examination demonstrated the quadriparesis, associated with positive Hoffman, Babinski, and clonus signs, and increased respond of deep tendon reflexes. Magnetic resonance imaging (MRI) demonstrated an ill-defined mass within medulla and upper cervical spinal cord, which was hypo to iso signal on T1, heterogeneous iso to hypersignal on T2 and demonstrated marked bright enhancement on T1 with gadolinium (Gad) injection. On surgery, the mass had a soft texture, ill-defined border, and grey to brown appearance. According to the frozen section report, and due to the absence of the tumour-neural parenchymal interference, only decompression of the tumour and expansile duraplasty were performed. The histopathology revealed ganglioglioma. On last follow-up 14 months after surgery, the patient was asymptomatic and neurological status was improved. The craniocervical MRI demonstrated the tumour that did not grow. Although it is rare, the ganglioglioma should be in the differentiated diagnoses of tumours with compatible clinical and radiologic features even in the unusual locations, especially in the pediatric and young patients. Safety surgical resection should be considered in these patients, whenever possible. In the case of partial resection, that is common in the tumours located within functionally critical structures, long close follow-up rather than radiation therapy is required.
- Published
- 2018
- Full Text
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37. Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations.
- Author
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Bahrami E, Witzel M, Racek T, Puchałka J, Hollizeck S, Greif-Kohistani N, Kotlarz D, Horny HP, Feederle R, Schmidt H, Sherkat R, Steinemann D, Göhring G, Schlegelbeger B, Albert MH, Al-Herz W, and Klein C
- Subjects
- Cells, Cultured, Consanguinity, DNA Repair genetics, DNA-Binding Proteins genetics, Genome-Wide Association Study, Genotype, Histones metabolism, Humans, Pedigree, Sequence Deletion genetics, Trans-Activators, Transcription Factors genetics, Ubiquitin-Specific Proteases, Ubiquitination, p38 Mitogen-Activated Protein Kinases metabolism, Bone Marrow Diseases immunology, DNA Damage immunology, DNA-Binding Proteins metabolism, Developmental Disabilities immunology, Hematopoiesis, Hematopoietic Stem Cell Transplantation, Immunologic Deficiency Syndromes immunology, Transcription Factors metabolism
- Abstract
Background: Myb-like, SWIRM, and MPN domains 1 (MYSM1) is a transcriptional regulator mediating histone deubiquitination. Its role in human immunity and hematopoiesis is poorly understood., Objectives: We sought to investigate the clinical, cellular, and molecular features in 2 siblings presenting with progressive bone marrow failure (BMF), immunodeficiency, and developmental aberrations., Methods: We performed genome-wide homozygosity mapping, whole-exome and Sanger sequencing, immunophenotyping studies, and analysis of genotoxic stress responses. p38 activation, reactive oxygen species levels, rate of apoptosis and clonogenic survival, and growth in immune and nonimmune cells were assessed. The outcome of allogeneic hematopoietic stem cell transplantation (HSCT) was monitored., Results: We report 2 patients with progressive BMF associated with myelodysplastic features, immunodeficiency affecting B cells and neutrophil granulocytes, and complex developmental aberrations, including mild skeletal anomalies, neurocognitive developmental delay, and cataracts. Whole-exome sequencing revealed a homozygous premature stop codon mutation in the gene encoding MYSM1. MYSM1-deficient cells are characterized by increased sensitivity to genotoxic stress associated with sustained induction of phosphorylated p38 protein, increased reactive oxygen species production, and decreased survival following UV light-induced DNA damage. Both patients were successfully treated with allogeneic HSCT with sustained reconstitution of hematopoietic defects., Conclusions: Here we show that MYSM1 deficiency is associated with developmental aberrations, progressive BMF with myelodysplastic features, and increased susceptibility to genotoxic stress. HSCT represents a curative therapy for patients with MYSM1 deficiency., (Copyright © 2017 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.)
- Published
- 2017
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38. Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes.
- Author
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Witzel M, Petersheim D, Fan Y, Bahrami E, Racek T, Rohlfs M, Puchałka J, Mertes C, Gagneur J, Ziegenhain C, Enard W, Stray-Pedersen A, Arkwright PD, Abboud MR, Pazhakh V, Lieschke GJ, Krawitz PM, Dahlhoff M, Schneider MR, Wolf E, Horny HP, Schmidt H, Schäffer AA, and Klein C
- Subjects
- Animals, Animals, Genetically Modified, Base Sequence, Cell Line, Tumor, Chromatin Assembly and Disassembly, Chromosomal Proteins, Non-Histone, DNA Mutational Analysis, Family Health, Female, Humans, Leukemia, Promyelocytic, Acute genetics, Leukemia, Promyelocytic, Acute pathology, Male, Mice, Inbred C57BL, Mice, Knockout, Pedigree, Zebrafish, Cell Differentiation genetics, Gene Regulatory Networks, Neutrophils metabolism, Transcription Factors genetics
- Abstract
We identify SMARCD2 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 2), also known as BAF60b (BRG1/Brahma-associated factor 60b), as a critical regulator of myeloid differentiation in humans, mice, and zebrafish. Studying patients from three unrelated pedigrees characterized by neutropenia, specific granule deficiency, myelodysplasia with excess of blast cells, and various developmental aberrations, we identified three homozygous loss-of-function mutations in SMARCD2. Using mice and zebrafish as model systems, we showed that SMARCD2 controls early steps in the differentiation of myeloid-erythroid progenitor cells. In vitro, SMARCD2 interacts with the transcription factor CEBPɛ and controls expression of neutrophil proteins stored in specific granules. Defective expression of SMARCD2 leads to transcriptional and chromatin changes in acute myeloid leukemia (AML) human promyelocytic cells. In summary, SMARCD2 is a key factor controlling myelopoiesis and is a potential tumor suppressor in leukemia.
- Published
- 2017
- Full Text
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39. Effect of anger management education on mental health and aggression of prisoner women.
- Author
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Bahrami E, Mazaheri MA, and Hasanzadeh A
- Abstract
Background and Purpose: "Uncontrolled anger" threats the compatible and health of people as serious risk. The effects of weaknesses and shortcomings in the management of anger, from personal distress and destruction interpersonal relationships beyond and linked to the public health problems, lack of compromises, and aggressive behavior adverse outcomes. This study investigates the effects of anger management education on mental health and aggression of prisoner women in Isfahan., Materials and Methods: The single-group quasi-experimental (pretest, posttest) by prisoner women in the central prison of Isfahan was done. Multi-stage random sampling method was used. Initially, 165 women were selected randomly and completed the Buss and Perry Aggression Questionnaire and the General Health Questionnaire-28, and among these, those with scores >78 (the cut point) in aggression scale was selected and among them 70 were randomly selected. In the next step, interventions in four 90 min training sessions were conducted. Posttest was performed within 1-month after the intervention. Data were analyzed using SPSS-20 software., Results: Data analysis showed that anger management training was effective in reducing aggression (P < 0.001) and also had a positive effect on mental health (P < 0.001)., Conclusion: According to the importance of aggression in consistency and individual and collective health and according to findings, presented educational programs on anger management is essential for female prisoners.
- Published
- 2016
- Full Text
- View/download PDF
40. Comparative Study of Vaginal versus Intramuscular Progesterone in the Prevention of Preterm Delivery: A Randomized Clinical Trial.
- Author
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Bafghi AS, Bahrami E, and Sekhavat L
- Abstract
Background: Preterm birth is a worldwide health concern due to its various negative consequences. Therefore, the prevention of preterm birth is a top priority for healthcare systems in all countries., Objective: To compare the effectiveness of vaginal versus intramuscular progesterone in the prevention of preterm delivery., Methods: This randomized clinical trial was conducted at Shahid Sadoughi Hospital in Yazd, Iran, from November 21, 2012 to January 20, 2015. Seventy-eight pregnant women with singleton pregnancy and one risk factor of preterm delivery were included in the study. The subjects were assigned randomly to two groups, with group one receiving Cyclogest and group two receiving 17-α hydroxyprogesterone caproate. Subsequently, we analyzed drug complications during pregnancy, delivery time, neonatal outcomes, and patients' satisfaction among the two groups. The data were analyzed using SPSS version 16. We used descriptive statistics, chi-squared, t-test, and ANOVA for the analyses of primary and secondary outcomes., Results: Among the 39 births in group one, 33.3% occurred preterm, and, among the 39 births in group two, 30.7% occurred preterm (< 37 weeks). The mean gestational ages at delivery in groups 1 and 2 were 37.07 ± 2.23 and 36.81 ± 2.77 weeks, respectively (p = 0.765). Other variables were not significantly different between the two groups, including birth weight (p = 0.745), Apgar scores for the first and fifth minutes (p = 0.574, 0.630), length of stay in the neonatal intensive care unit (NICU) when the newborns needed hospitalization (p = 0.358), and the patients' satisfaction with the drugs that were used (p = 0.615)., Conclusions: In this study, vaginal progesterone and intramuscular progesterone had the same levels of effectiveness, safety and acceptance by patients in the prevention of preterm delivery. Therefore, both can be used for this purpose in clinical practices, but more studies are needed.
- Published
- 2015
- Full Text
- View/download PDF
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