Archives of Iranian Medicine最新文献

Here, we report a case with concomitant variants: a novel homozygous HERC1 gene variant and a novel heterozygous PMP22 duplication. The 2-year-old male presented with seizures, developmental delay, macrocephaly, hypotonia, unilateral hypertrophy, thoracic scoliosis, normal brain MRI, and elevated homocysteine level which normalized after treatment. Whole exome sequencing (WES) revealed a co-occurrence of a homozygous novel likely pathogenic variant in the HERC1 gene (NM_003922.3:c.1280dup (p.ILe469Aspfs*33) and a novel heterozygous large duplication of exon 1-5 in the PMP22 gene, which has not been reported previously. The case underscores the challenges in understanding genotype-phenotype correlations and suggests a potential interplay between these genetic variants in shaping the current and future clinical phenotype of the patient. In the case of genetic diseases, this event may have important implications on family members' counseling, and concomitant variants in Charcot-Marie-Tooth (CMT) families should be considered when significant intra-familial clinical heterogeneity is observed.

Background: Xanthogranulomatous cholecystitis (XGC) is a rare, chronic gallbladder inflammation often mistaken for gallbladder cancer (GBC) on imaging. Accurate differentiation is vital for appropriate treatment. This study aims to enhance computed tomography (CT) scan diagnostic accuracy for distinguishing XGC from GBC.

Methods: This retrospective study included patients diagnosed with XGC and GBC between 2014 and 2023. CT images of 70 patients (16 GBC, 54 XGC) were reviewed. Radiologists assessed CT parameters: gallbladder wall thickening, intramural hypoattenuating nodules, enhancement characteristics, mucosal line continuity, pericholecystic fat stranding, presence of stones, bile duct dilatation, hepatic invasion, invasion to adjacent structures, and lymph node size.

Results: Among 70 patients, there were 38 males (54%) and 32 females (46%), with a median age of 62 years. GBC patients were significantly older (median age 72 years) compared to XGC patients (60 years) (P=0.001). Diffuse gallbladder wall thickening was more frequent in XGC (70%) than GBC (12.5%) (P<0.001). Continuous mucosal lines and intramural hypoattenuating nodules were more common in XGC (P<0.001 and P=0.010, respectively). Intrahepatic bile duct dilatation and invasion to adjacent structures were significantly linked with GBC (P<0.001 and P=0.043). Lymph nodes with a short axis>8 mm indicated GBC (P<0.001), with a cutoff providing 71.4% sensitivity and 84% specificity (AUC: 0.843, P<0.001). CT showed 75% sensitivity (95% CI: 48-93%), 74% specificity (95% CI: 60%-85%), and 74% accuracy (95% CI: 62%-84%).

Conclusion: CT imaging can effectively differentiate XGC from GBC, and larger studies can further improve diagnostic accuracy.

Background: Blood cancers account for a significant proportion of cancer-related deaths worldwide. In this study, hematological cancer mortality in northern Iran was examined during 2013-2021, along with age-adjusted mortality rates.

Methods: In a cross-sectional study, we conducted an analysis of all deaths from hematological neoplasms registered in Babol city between 2013 and 2021. In order to estimate the population, the most recent census data was used. The mortality rates and trends for each hematological malignancy were reported in crude mortality rate (CMR) and age-standardized mortality rate (ASMR).

Results: In total, 357 deaths (10.8% of all cancer-related deaths) were attributed to hematological neoplasms, with an average age of 61.9±19.3 years. The crude and age-adjusted mortality rates of hematological neoplasms increased from 3.1 and 2.7 per 100000 people in 2013 to 8.1 and 6.9 per 100,000 people in 2021, respectively. Mortality trends of hematological cancers increased with age decade for both sexes (P<0.001). Additionally, when examining the trends of each hematological neoplasm, there was a significant increase in neoplasms including non-Hodgkin lymphoma (P=0.033), multiple myeloma (P=0.002), and leukemia (P<0.001), except for the consistent trend observed in Hodgkin lymphoma (P=0.247).

Conclusion: The trend of hematological malignancies in Babol city is increasing across all age groups and in both sexes. This study emphasizes the need for effective prevention and treatment strategies, including improving access to cancer care, enhancing surveillance in families with blood malignancies and reducing modifiable risk factors. Additionally, further research is warranted to develop targeted interventions.

Background: Monitoring and evaluation are crucial in ensuring the effective implementation of health priorities. This descriptive study examined the progress towards implementing Iran's General Health Policies (IGHP) to illustrate how countries can effectively monitor and evaluate their national plans. Additionally, the study sought to identify factors that impede the full implementation of these policies.

Methods: Available data sources, formal reports, and studies were examined to gather data on selected indicators. Then, documentary analysis and 21 semi-structured interviews were conducted to identify measures taken to materialize IGHP and factors that hindered the full implementation of IGHP. Data were analyzed using the content analysis method.

Results: The results showed that several indicators improved during these years, while there was no data for some indicators. There are some barriers to implementing the IGHP, including lack of full understanding of the policies, absence of necessary mechanisms and infrastructures, lack of coherency and alignment of national health plans and policies, absence of monitoring and evaluation framework, and lack of transparency and accountability in the health system. As countries continue to develop their health plans and policies, lack of clarity regarding the progress of these plans remains a concern.

Conclusion: Countries need to strengthen their health planning systems and expedite the implementation of accountability mechanisms within the health system. Enhancing capacity building is essential to establish a comprehensive monitoring and evaluation framework. By fortifying these systems, countries will be better equipped to measure and track progress toward achieving their health objectives.

Dengue infection is an emerging public health issue in Iran, with about 149 confirmed newly infected cases. It can be transmitted by the bite of infected Aedes mosquitoes and even nosocomial routes. Due to the rapid replication and geographical spread of the mosquito, there is a potential risk of increased infected individuals. Given the possibility of the transmission of dengue infection through transfusion, it is important to implement policies to improve blood safety. Proper donor selection by utilizing appropriate blood donor questionnaires and performing general physical examinations, along with performing sensitive diagnostic tests on blood donor samples, utilizing pathogen reduction techniques, and implementing lookback programs, can be effective in reducing the risk of transfusion-transmitted dengue virus (TT-DENV).

Background: Xenogeneic graft-versus-host disease (xGvHD) is an inevitable confounder of preclinical evaluation of adoptive immunotherapies on tumor-bearing immunodeficient mouse models. This study was designed to appraise the clinical and histopathological effects caused by xGvHD in severely immunodeficient mice considering the T cell dosage.

Methods: Fifty NOG mice underwent intraperitoneal injection of three different doses of human-derived total T cells, a high dose of CD8⁺T cells, or vehicle (as control). Clinical and histopathological status of the study subjects were evaluated and compared according to scoring systems.

Results: In mice receiving higher doses of total T cells, the clinical severity of xGvHD was greater. However, recipients of CD8⁺T cells developed none to mild xGvHD manifestations. Higher doses of T cells were associated with poorer outcomes including premature death and more severe histopathologic damages. Greater CD3⁺T cell tissue engraftment (immunohistochemical CD3 positivity) was associated with more severe xGvHD-induced histopathological damages. Clinical xGvHD scores were significantly correlated with histopathological xGvHD scores in total and in each tissue. Mice with severe cutaneous symptoms had higher scores of xGvHD-induced histopathologic changes in the skin. Lethargy was associated with higher histopathological scores in the lungs, liver and spleen.

Conclusion: In preclinical evaluations, lower doses of T cell-based therapies are associated with milder xGvHD. Development of xGvHD may be averted by the use of CD4⁺T cell-depleted grafts. Histopathological and clinical scoring systems for evaluating xGvHD are significantly correlated. The lungs and liver are reliable organs for histopathological assessment and scoring of xGvHD.

Background: Urinary stone disease is a prevalent health issue worldwide, with varying incidence influenced by multiple factors. This study aims to provide the first comprehensive analysis of urinary stone composition in Azerbaijan.

Methods: A retrospective study was conducted on 1465 patients, aged 1‒83 years, who underwent biochemical urinary stone analysis at the Department of Renal Diseases and Organ Transplantation, Azerbaijan State Security Service Military Hospital, between April 2015 and December 2023. Stone samples were analyzed using Fourier transform infrared (FTIR) spectroscopy. Statistical analyses were performed using the IBM® SPSS software version 29.0.

Results: The cohort had a median age of 45 years, with a male-to-female ratio of 1.65:1. Calcium oxalate stones were the most common (56.2%), followed by uric acid (33.7%), struvite (5.3%), cystine (2.5%), calcium phosphate (1.9%), and xanthine (0.1%) stones. Men had a higher prevalence of calcium oxalate and uric acid stones, while women had more struvite stones. Mixed stones were common, particularly among uric acid and struvite stones. Significant differences in stone composition were observed between age groups and genders, with uric acid stones found predominantly in older individuals.

Conclusion: This study highlights the predominance of calcium oxalate stones and the elevated prevalence of uric acid stones in Azerbaijan, emphasizing the need for tailored diagnostic and therapeutic approaches. The high prevalence of mixed stones underscores the complexity of urinary stone disease and the need for comprehensive metabolic evaluation and individualized preventive strategies.

Background: Anxiety and fatigue are symptoms typically experienced by cancer patients undergoing chemotherapy. In dealing with these symptoms, listening to music may help patients.

Methods: The randomized controlled study was conducted between May 1, 2022 and November 10, 2022 with 60 patients treated in the outpatient chemotherapy unit. The data were gathered using a patient information form, Brief Fatigue Inventory, and the State Trait Anxiety Inventory. In addition to standard treatment and care, 30-minute music was played with a passive listening method in a total of three cycles of chemotherapy in the intervention group patients who completed the first cycle and visited for the second cycle of chemotherapy.

Results: According to the analysis of covariance (ANCOVA) findings, the group variable significantly affected the post-test state anxiety scores when an adjustment was made for pre-test state anxiety scores (F=240.398, P<0.001, η²=0.808). In addition, pre-test state anxiety scores affected post-test results (F=7.925, P=0.007, η²=0.122). According to the ANCOVA findings, the group variable significantly affected the post-test trait anxiety scores (F=235.243, P<0.001, η²=0.805). In addition, pre-test trait anxiety scores affected post-test results (F=34.977, P<0.001, η²=0.380). According to ANCOVA results, the group variable significantly affected post-test fatigue scores (F=79.201, P<0.001, η²=0.582). In addition, pre-test scores affected post-test scores (F=11.082, P=0.002, η²=0.163).

Conclusion: We observed that music had positive effects on fatigue and anxiety levels in cancer patients undergoing chemotherapy. It may be recommended to include music intervention in nursing practices for cancer patients during chemotherapy. The study results demonstrated that music intervention can be used in nursing practices for cancer patients during chemotherapy. Its low-cost and non-invasive nature also provide ease of application. Therefore, we can recommend the application of music intervention in outpatient chemotherapy units.

A 62-year-old man diagnosed with acute myeloid leukemia (AML) showed limited responses to two courses of azacitidine (AZA)+Venetoclax (VEN) therapy. Twenty days after being transferred to our hospital, flow cytometry with broad antigen coverage and mutation analysis confirmed the presence of a second malignancy, hairy cell leukemia (HCL). Following haploidentical combined umbilical cord blood transplantation, the patient achieved complete remission (CR) for both AML and HCL. This CR has been maintained for the past 14 months. Patients with dual hematologic malignancies may not respond well to conventional therapy regimens. Early initiation of hematopoietic stem cell transplantation is beneficial for improving prognosis and extending overall survival.