ACTA MEDICA IRANICA
Year:2019 | Volume:57 | Issue:3|Papers Count:12

Hereditary non-polyposis colorectal cancer (HNPCC) is the most frequent autosomal dominant predisposition for development of colorectal cancer (CRC) caused by germline defects in mismatch repair (MMR) genes. Current study was aimed to find genetic variations in MSH2 and MLH1 genes and their correlation with the serum levels of Carcinoembryonic Antigen (CEA) in seven Iranian HNPCC families. Seven unrelated Iranian families including 11 HNPCC patients and 7 affected family members were selected. They were initially screened for mutations in exons 7 of MSH2 and exon 15 of MLH1 gene through polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP). Positive PCR results were further analyzed through exon sequencing. Serum CEA level was determined using the ELISA test. PCRSSCP was positive in 8 out of 18 patients (44%) for exons 7 of MSH2 gene, whereas two samples (11%) demonstrated to bear a mutation in exon 15 of the MLH1 gene. Sequencing analysis of both amplified exons in positive and negative samples have confirmed no mutation in negative samples while revealed 5 and 7 novel mutations in exons 7 and 15, respectively. The mean serum concentration of CEA had a significant difference between HNPCC patients and their healthy family members. Our results demonstrated that the PCR-SSCP method has high specificity and sensitivity in the first step of mutation screening of HNPCC families. High frequency of novel alterations found in the current assay may revise the mutation screening of MSH2 and MLH1 genes and abet further assessment of their frequency among individual HNPCC patients.

Basal cell carcinoma (BCC) is one of the most common types of human cancer. Since oxidative stress is believed to be one of the pathogenic mechanisms involved in BCC formation, understanding the probable relation of inflammatory, oxidative factors, such as serum protein carbonyl and total antioxidant capacity, to BCC can help identify other pathogenic aspects of this tumor. Forty cases of BCC and forty cases of healthy controls without BCC or any other systemic disease were included in this study. After 5-ml venous blood samples were obtained from each patient, the separated serum fractions were stored at-70 C until analysis. Serum protein carbonyl level in the BCC group was significantly higher than that in the healthy controls ((5. 86± 3. 25 μ M vs. 0. 86± 0. 20 μ M, P<0. 001). The average serum total antioxidant capacity was 3. 41± 0. 05 mM in the BCC group and 1. 15± 0. 03 mM in the control group (statistically significant at P<001). Oxidative stress might play a role in the pathogenesis of BCC.

Due to high prevalence of diabetes in our region (16. 3%) and no data on the frequency of gastrointestinal (GI) symptoms in this population, we performed a cross-sectional study to evaluate the frequency of GIsymptoms in diabetic patients and its association between microvascular complications (retinopathy and nephropathy) and gastrointestinal symptoms in diabetic subjects. This analytical crosssectional study was conducted from 2014 to 2016 on 233 patients with type 2 diabetes mellitus (T2DM), 30-65-year, referred to Yazd diabetic research center. They were selected by convenient sample method. A questionnaire according to Rome III Criteria was used to collect digestive information related to diabetes. Last HbA1c (Since 2-3 months ago) was available in the patient's medical folder. Diabetic nephropathy defines to increased excretion rate of albumin in the urine in the range of above 30 mg/g creatinine. Diabetic retinopathy was examined by an expert ophthalmologist (retinal specialist). For the current study, 233 patients (age 30-65 years with mean age of 57. 43± 10. 49 years, 102 (43. 8%) males and 131 (56. 2%) females) were included. Among 233 patients, 91 cases (39. 1%) had nephropathy, and 111(47. 6%) subjects had different degrees of retinopathy. Bloating and early satiety and upper GI symptoms were higher in the subjects with retinopathy than another group. In summary, this study provides evidence that GI symptoms in diabetic subjects are independently linked to diabetic complications, particularly to retinopathy.

The relation between serum preptin, myostatin, insulin, and also homeostatic model assessmentinsulin resistance were examined in pre-diabetes persons and newly diagnosed patients with overt type 2 diabetes mellitus. A total of 84 subjects were included in the study and assigned into three groups: normoglycemic participants (group 1=27), pre-diabetes (group 2=30), and T2DM (group 3=29). Serum insulin, preptin, and myostatin levels were measured with immunoradiometric assay (IRMA), enzyme-linked immunosorbent assay (ELISA), and chemiluminescent immunoassay (CLIA), respectively. Patients with T2DM had higher levels of preptin compared to normoglycemic (461. 25± 53. 90 vs. 407. 54± 54. 78, P<0. 001). Furthermore, these patients had elevated levels of myostatin compared with controls (2710. 60± 559. 09 vs. 2246. 37± 416. 40, P<0. 001). Preptin and myostatin both positively correlated with serum insulin (r=0. 369, P=0. 01, and r=0. 309, P=0. 04, respectively). However, no significant association was found between serum preptin and myostatin levels. Stepwise multiple regression analysis showed that insulin was affected more by preptin, with only a trivial contribution from myostatin. Serum preptin and myostatin levels increase in prediabetic subjects and even further in type 2 diabetic patients. The correlation between preptin and insulin evolves when pre-diabetes or overt type 2 diabetes develops. Moreover, serum myostatin increases in association with insulin and not HOMA-IR in diabetic conditions.

Many studies were carried out to improve sophisticated approaches to accelerate wound healing processes and also, wound healing is extensively discussed in the medicinal literature. In this study, we aimed to investigate the wound healing of mice with visible radiation (630 nm). In this study, 28 male mice were used and randomly divided into 4 groups. All samples were subjected to a 6 mm skin incision. Four groups were tested as following 10 minutes (First group), 20 minutes (Second group), 30 minutes (Third group) light exposure and no light radiation (control group), respectively. Wound contraction was analyzed by taking photos and Image J software. All mice were sacrificed, and samples were evaluated by Hematoxylin and Eosin staining after one week. The results demonstrated that the experimental group with 20 min. light irradiation had a much faster effect of wound healing than the 10, 30 minute and control group. The results showed that 20 minutes of light exposure group was the best treatment.

Breast cancer is the most common cancer among the female population, and its prevalence is increasing worldwide. Trastuzumab (Herceptin) therapy improves prognosis in HER2 positive patients, but Heart Failure (HF) is one of its known complications. In this study, we aimed to assess the potential benefits of prophylactic carvedilol therapy in patients receiving Herceptin. Sixty five patients with HER2 positive breast cancer were enrolled in the study. All of the patients received Herceptin. Twenty seven patients also received carvedilol 6. 25 mg twice daily, and 38 patients had usual care. Echocardiography was performed at baseline, and after three months in both groups and changes in cardiac function, parameters were compared between two groups. After 3 months, LA volume index (P=0. 012), TAPSE (P=0. 009), Tei index (P=0. 015) and Lateral Longitudinal Strain (P=0. 024) were significantly better in patients receiving carvedilol. Carvedilol can be effective in the prevention of systolic and diastolic dysfunction following Herceptin therapy.

The human T cell lymphotropic virus type-1 (HTLV-1) is associated with adult T cell leukemia/lymphoma (ATL) and other disorders, including a slowly progressive demyelinating paraparesis, known as HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). Dermatologic manifestations are common in patients infected with HTLV-1 infection. In this study, we evaluated the dermatologic lesions associated with HAM/TSP patients in Mashhad, Iran. Dermatological findings of 37 patients with HAM/TSP were investigated and compared with those of an HTLV-1 negative control group. A cutaneous biopsy was performed as needed, and the results were statistically analyzed. Results of the present study showed that 34 cases with HAM/TSP (91. 9%) and 24 cases in the control group (64. 9%) had at least one skin lesion or history of skin lesion before (P=0. 010). Xerosis was found in 22 persons (59. 5%) in the case group and 4 persons in the control group (10. 8%) (P=0. 000). Only xerosis was significantly associated with HAM/TSP. Skin manifestations were quite frequent in patients with HAM/TSP. Xerosis was significantly associated with HAM/TSP.

Cancer can be defined as an abnormal growth of cells that can spread inside the body and affect many tissues and organs in different forms. It is a group of diseases that happen when abnormal cells grow and spread quickly. The purpose of the study was to determine the prevalent types of cancer and the risk factors associated with disease among children in Sulaimani city. The main part of this research was a hospital-based case-control study. The sample included 100 children aged 0-16 years (50 cases and 50 controls). The study was conducted in Sulaimani Hiwa Hospital and Pediatric Teaching Hospital from 1st January to 1st May 2018. Data on the exposed risk factors were obtained from face to face interview with the mother's cases and controls. Data was entered into Epidat version 3. Data were analyzed using STATA 11. Descriptive and percentages were used for Socio-demographic variables, odds ratios were used to determining potential risk factors, and P less and equal to 0. 05 was estimated as statistically significant. The mean age of children was 46. 2 (SD 42. 7) months and the mean age of the mothers at the time of pregnancy was 28. 4 (SD 6. 7) years. Overall, there were 61 males and 39 females in the study. The commonest types were ALL (30%) while the less common types were osteosarcoma (4%). The risk factors linked to cancer were cesarean section (odds 2. 7, P=0. 02), family history (odds 10. 8, P=0. 008), mothers exposed to pesticides and chemicals during pregnancy (odds 3. 0, P=0. 01), (odds 6, P=0. 0006) respectively, children exposed to pesticide (odds 5. 4, P=0. 02), exposed to passive smoke have similar odds (odds 3. 0, P=0. 01). Children's caffeine consumption (odds 2. 3, P=0. 04) and fast food (odds 3. 0, P=0. 01). In general, to control and prevent cancer among children, it is highlighting the need for communication and education mothers to aware about potential risk factors that lead to cancer. Furthermore, studies with larger sample size are required to determine other risk factors for cancer.

Paratesticular fibrous pseudotumors (PFP) are relatively rare benign spindle cell tumors. These tumors usually are originated from testicularis tunics and grow into the epididymis and spermatic cord. PFP is a consequent of a reactive proliferation of inflammatory tissue. We report a case of PFP with simultaneous multiple tunica albuginea and tunica vaginalis lesions. A 33-year-old man presented with painless right scrotal lump, normal serum tumor markers, and one centimeter paratesticular mass in ultra-sonography that underwent testis-sparing surgery due to a benign microscopic appearance in frozen section evaluation. Testis sparing surgery can be considered as the preferred management because of the lack of obvious evidence of potential malignancy in this tumor.

Pleomorphic hyalinizing angiectatic tumor (PHAT) is a rare, slow-growing mass, which is locally aggressive and classified as tumors of borderline malignancy. In this study, we report a case of subcutaneous ankle mass in 43-year-old female since 2 years ago with a pathological diagnosis of PHAT, characterized by clusters of ectatic, fibrin-lined, and thin-walled vessels which are surrounded by a spindled or pleomorphic neoplastic stroma.

We report two cases of pleomorphic breast carcinoma, a rare variant of high-grade invasive ductal breast carcinoma of no special type, which is a combination of pleomorphic and bizarre giant cells in an adenocarcinoma background. For gaining better insights, available literature is also reviewed.

We reported two cases of immunocompetent patients with a rare form of AIDS-associated Kaposi sarcoma (KS), without visceral involvement, presenting with an unusual clinical and histopathological picture called telangiectatic and lymphangioma-like KS, respectively. Dermatologists and pathologists need to be aware of this uncommon described variant to avoid the potential for misdiagnosis.