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Ziba Majidi

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Review Open access Aug 2026

Planning, Implementation, and Evaluation of a Summer School of Laboratory Skills Prior to Internship Based on the Repetition Activity in Education for Bachelor of Medical Laboratory Sciences Students

Background and Aim: Preparing laboratory sciences students for clinical internship requires enhancing practical skills and effective review of theoretical topics taught in the early years. This study aimed to design, implement, and evaluate a summer school for laboratory skills to improve students’ preparedness before entering clinical internships. Materials and Methods: This study was conducted over two consecutive academic years (2022–2023 and 2023– 2024) at the School of Allied Medical Sciences, in collaboration with the Departments of Laboratory Sciences, Hematology and Blood Transfusion, and Medical Information Sciences. Educational needs were identified through literature review and unstructured interviews. Subsequently, six specialized hands-on workshops were designed and conducted, covering Hematology and Blood Banking, Biochemistry, Immunology and Serology, Microbiology, Parasitology, and Hormone Assays. The quality of the courses was assessed with a researcher- made questionnaire. The questionnaire was designed based on a literature review and considering the research objectives. The face and content validity of this questionnaire was qualitatively reviewed and confirmed by experienced teachers (5 members of the faculty of the Laboratory Sciences Department), and its reliability was calculated and confirmed based on Cronbach’s alpha coefficient of 0.92. The questionnaire items measured the level of student satisfaction with a 5-point Likert scale from completely disagree (1) to completely agree (5). Statistical analysis was performed using SPSS statistical software. The effect of the courses on the students’ competence after the internship was also measured with the questionnaire. Results: Based on the results of the questionnaires completed by the students, 93.3% of the participants expressed their satisfaction with the overall implementation of the summer school. Further details showed that 91.6% of the students believed that the summer school was effective in improving their practical skills. Also, 78.8% of the participants gave a positive rating to the educational environment provided for practical learning, and 93.9% expressed their satisfaction with the supervision and feedback provided by the professors. Based on the results of the questionnaires after the end of the 12-unit internship, on average, 77.7% of the students stated that participating in the summer school increased their self-confidence and ability to perform laboratory tests during the internship. Also, 66.6% of the participants evaluated the course as an effective factor in improving their readiness to enter the clinical hospital environment. More than 90% considered the workshops useful for consolidating knowledge. Conclusion: It seems that the summer school increased students’ satisfaction and preparedness for entry into the clinical environment. It is recommended that such programs be integrated into the laboratory sciences curriculum.

M. Ahmadian, Zahra Molaei, Monireh Rahimkhani et al. · 0 citations
Open access Jan 2026

Whole‐Exome Sequencing in Undiagnosed Muscular Dystrophies: A High Diagnostic Yield and Novel Insights From Iranian Families

Background Muscular dystrophies (MDs) are a genetically heterogeneous group of disorders, posing significant diagnostic challenges, especially in populations with high consanguinity. Despite advances in genetic testing, a substantial proportion of patients remain undiagnosed. Whole‐exome sequencing (WES) has emerged as a powerful tool for identifying causal variants in such unresolved cases. To identify the genetic basis of nondystrophinopathic MDs in Iranian families with inconclusive prior genetic testing and to evaluate the diagnostic yield and mutational spectrum in this population. Methods We performed WES on one affected individual from each of 10 unrelated Iranian families with clinically diagnosed MD. Candidate variants were prioritized based on in silico prediction tools (SIFT, PolyPhen‐2, CADD, SpliceAI), population frequency databases (gnomAD, 1000 Genomes, EVS), and ACMG/AMP guidelines. Findings were validated by Sanger sequencing, MLPA, and STR haplotype analysis. Segregation analysis was performed in available family members. Results WES led to a diagnostic yield of 69.2% (9/13 variants in 10 families) after segregation analysis and ACMG‐based reclassification. We identified 13 candidate variants in 10 known MD‐associated genes, including DYSF, SGCA, TK2, MAP3K20, LMNA, COL6A1, COL6A2, ITGA7, MICU1, and SGCB. Among these, seven variants (54%) were novel. The majority of cases (84.6%) followed an autosomal recessive pattern, consistent with high parental consanguinity (70%). Notably, a de novo splice‐site variant in COL6A2 (c.1053+1G>T) was identified in a sporadic case, confirming an autosomal dominant inheritance. Challenges in variant interpretation were observed in families with variants in tightly linked genes (COL6A1 and COL6A2), highlighting the role of linkage disequilibrium in founder populations. Conclusion WES is a highly effective diagnostic strategy for genetically heterogeneous MDs, particularly in consanguineous populations. Our study expands the mutational spectrum of MDs in Iran and provides critical data for genetic counseling, prenatal diagnosis, and future therapeutic development. The high rate of novel variants underscores the importance of population‐specific genomic studies.

Nasibeh Soltani, Zahra Shahbazi, M. Fallah et al. · 0 citations

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