Arch Iran Med
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Hereditary sensory autonomic neuropathy type VIII (HSAN-VIII) is a rare genetic disease that occurs due to mutations in the PRDM12 gene. Here, we describe a novel homozygous mutation c.826_840dupTGCAACCGCCGCTTC (p. Cys276_Phe280dup) on exon 5 in the PRDM12 gene identified by WES and confirmed using Sanger sequencing method.
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Prevention of urinary stone recurrence is the ultimate goal in urolithiasis patients. In this study, we aimed to investigate the national prevalence rate and possible determinants of increased urolithiasis recurrence risk in a nationwide study in Iran. ⋯ Our results indicate that a positive family history of urolithiasis in mother and father and residence in urban areas are the significant predictors of recurrence risk in urolithiasis patients in Iran.
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Abnormal uterine bleeding (AUB) refers to any symptomatic deviation from normal menstruation. AUB is a common gynecological disorder in non-pregnant women of reproductive age, accounting for approximately 33% of gynecological outpatient visits. The early diagnosis and management cause of AUB is important because of increased incidence of endometrial carcinoma with rapid growth. Transvaginal ultrasound is non-invasive imaging technique used to find endometrial carcinoma before referring patients for invasive techniques. Dilatation and curettage (D&C) and endometrial biopsy are surgical procedures that scrape the endometrial lining of the uterus for diagnosis and treatment. The aim of this study is to describe the clinicopathologic pattern of endometrial specimens in women with AUB and ultrasonographic correlation. ⋯ Endometrial sampling is a useful tool for evaluation of women with AUB and referring patients for treatment. Histopathological evaluation of the endometrium is very useful in detecting the etiology of AUB. Transvaginal sonography has high sensitivity in detecting polyps.
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While there has been extensive research on colorectal cancer (CRC) incidence and its associated factors in Iran, a significant gap exists in studies predicting its future trends. Our study aimed to thoroughly report CRC incidence across Iran from 2014 to 2017, by sex, age, and geographical regions, and provide a projection for 2025. ⋯ The anticipated increase in CRC incidence in Iran emphasizes the need for additional studies to better identify risk factors. Furthermore, implementing screening programs is recommended for individuals at a higher risk of CRC, including men, the elderly population, and those residing in regions with a notable prevalence of CRC.
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Neoadjuvant chemotherapy (NCT) has become an increasingly popular approach in management of breast cancer (BC). This study was conducted to evaluate the pathologic response and 36-month recurrence and survival rates of patients with human epidermal growth factor receptor 2 (HER2)-negative BC treated with different NCT regimens. ⋯ This study provides further evidence that NCT is a viable treatment option for patients with HER2-negative BC. The TAC regimen resulted in a significantly higher pCR rate compared to other regimens, but did not result in a significant improvement in recurrence, OS and DFS and rates.