Rare single-nucleotide variants of MLH1 and MSH2 genes in patients with Lynch syndrome.

BACKGROUND: Approximately 5% of colorectal cancers (CRCs) are hereditary. Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), is the most common form of recognized hereditary CRC. Although Iran, as a developing country, has a high incidence of CRC, the spectrum of variants has yet to be thoroughly investigated. AIMS: This study aimed to investigate pathogenic and non-pathogenic variants in MLH1 and MSH2 genes in Iranian patients with suspected Lynch syndrome (sLS). METHODS AND RESULTS: In the present study, 25 peripheral blood samples were collected from patients with sLS and high microsatellite instability (MSI-H). After DNA extraction, all samples underwent polymerase chain reaction and Sanger sequencing to identify the variants in the exons of MLH1 and MSH2 genes. The identified variants were interpreted using prediction tools, and were finally reported under ACMG guidelines. In our study population, 13 variants were found in the MLH1 gene and 8 in the MSH2 gene. Interestingly, 7 of the 13 MLH1 variants and 3 of the 8 MSH2 variants were novel, whereas the remaining variants were previously reported or available in databases. In addition, some patients with sLS did not have variants in the exons of the MLH1 and MSH2 genes. The variants detected in the MLH1 and MSH2 genes had specific characteristics regarding the number, area of occurrence, and their relationship with demographic and clinicopathologic features. CONCLUSION: Overall, our results suggest that analysis of MLH1 and MSH2 genes alone is insufficient in the Iranian population, and more comprehensive tests are recommended for detecting LS.

A novel stop codon mutation in STK11 gene is associated with Peutz-Jeghers Syndrome and elevated cancer risk: a case study.

Based on the analysis of patients with Peutz-Jeghers syndrome (PJS), Serine threonine kinase11 (STK11) is known as a tumor suppressor gene, which is involved in cell polarization, regulation of apoptosis, and DNA damage response. In this case report study, we examined STK11 gene sequencing in a 42-year-old woman with mucocuta neous pigmentation and positive family history. Endoscopy and colonoscopy showed >1000 polyps throughout the stomach/colon (PJ-type hamartomas). The larger polyp in the stomach was resected and the small bowel imaging detected multiple jejunum/ileum small polyps. The data released from the sequencing results revealed five alterations in exons 1 to 5. The major mutation in stop codon was reported as converted to the amino acid tryptophan (TRP) to tyrosine (TER). The TGG codon was converted to TAG by mutation. Finally, another novel mutation in STK11 stop codon as a 'de novo' variant was seen. It is predicted that stop codon mutations make the affected person susceptible to developing colorectal cancer.

Fistulectomy and primary sphincteroplasty in complex anal fistula treatment: a hospital-based long-term follow-up study.

BACKGROUND: Currently, there is no agreement on the best treatment for complex anal fistulas with the least recurrence and lowest complication rate. The aim of this study was to evaluate the long-term recurrence and incontinence after fistulectomy and primary sphincteroplasty (FIPS) in a group of patients with complex perianal fistula. METHODS: This prospective observational study was done at the colorectal ward of Taleghani Hospital of Tehran from January 2010 to December 2020. Patients with anal fistula who underwent FIPS were studied. After surgery, patients were evaluated regularly by a colorectal surgeon for fistula recurrence and incontinence. Recurrence was described as a new fistula tract formation after the initial cure and failure of healing in the operation site or any purulent discharge from the fistula tract and openings. In addition, the patient's continence was assessed based on the Wexner score. RESULTS: There were 335 patients (66 men and 269 women, mean age 42.74 ± 12.44 years), 191 of them with low fistula and 144 with high fistula. Thirteen patients (3.90%) experienced recurrence (all had a low fistula). Thirty-nine patients (11.64%), 19 patients with high and 20 patients with low fistula, had a Wexner score ≥ 3 during the follow-up. Fifteen patients were lost to follow-up. Male patients (OR = 2.67, 95% CI 0.84, 8.45, p = 0.094, adjusted OR = 4.41, 95% CI 1.05, 18.48, p = 0.042), patients with low fistula (p = 0.001), and recurrent cases had a significantly higher rate of recurrence (OR = 10.38, 95% CI 3.24-33.20 p ≤ 0.001, adjusted OR = 23.36, 95% CI 4.35-125.39, p ≤ 0.001). A significant correlation between body mass index > 35 kg/m2 and incontinence was found (OR = 4.40, 95% CI 1.35, 14.33, p = 0.014). CONCLUSIONS: In the present study, an acceptable healing rate and a low percentage of complications following FIPS were seen in patients with complex anal fistula. Randomized clinical trials with appropriate follow-up duration and sample size comparing different surgical methods in these patients are needed to confirm these results.

May position of hemodialysis catheter tip have a direct effect on its patency? Positive results of a preliminary study on its rotation.

Renal transplant therapy is essential in patients with End-Stage Renal Disease (ESRD). It is used in patients awaiting a kidney transplant or those who cannot be a transplant candidate. Central venous catheter is one of the most used access routes worldwide but has been recorded as the one with highest mortality and morbidity rate. Thromboembolic events have played a major part for that. This is a descriptive-analytical study, which conducted in a university treatment center in Tehran, Iran. A total of 225 patients were selected for this study that 108 were excluded because of our criteria. Statistical analysis was performed by SPSS v19 and a total of 117 patients were included in this study. The average age of the patients was 51.62±11.26. 79 (67.5%) and 38 (32.5%) patients had medial and lateral tip direction, respectively. The catheter of 85(72.6%) and 32(27.4%) patients was patent and occluded, respectively. The average catheter tip occlusion time in both groups was 22.5 and 7.5 months. Three-month, six-month, twelve-month, and twenty-four-month patency rate were 99%, 94%, 88%, and 30%, respectively. our findings suggest that medial direction of the tip of the catheter reduces complications caused in CVS. Because our study has been conducted in a small scale and there is lack of similar studies, our team suggests extension to a larger scale to confirm or not our results.

Multiple Complex Complications After Redo Bariatric Surgery (Infrequent Complication: Fistula Between the Splenic Artery and the Remnant of the Stomach): A Case Report.

With the epidemic prevalence of obesity in today's society, bariatric surgery has become very popular in treating severe obesity. Although the complications of this surgery have decreased with the advancement of medicine and post-treatment care, there are still complications that can lead to death if neglected. In this case report, we present a 44-year-old patient who underwent redo bariatric surgery. She was discharged from the hospital in good general condition but returned a few days later with a major complaint of abdominal pain and sudden bleeding from the upper gastrointestinal tract. After performing CT and endoscopy and considering the results, the patient underwent laparotomy, which showed a fistula between the splenic artery and the remnant of the stomach. After surgery and after the recovery period, the patient was discharged from the hospital. In this case report, we describe for the first time an uncommon and unique complication following redo bariatric surgery. We suggest that a fistula between the splenic artery and the remnant of the stomach should be considered in patients with abdominal pain and upper gastrointestinal bleeding who underwent redo bariatric surgery.

Postoperative outcomes of intrasphincteric botox injection during hemorrhoidectomy: A double-blind clinical trial.

BACKGROUND: Pain is the most common postoperative complication of hemorrhoidectomy. We evaluated the effectiveness of intrasphincteric Botox injection on posthemorrhoidectomy complications including pain reduction and wound healing. MATERIALS AND METHODS: In this randomized, double-blind clinical trial, patients with Grades 3 or 4 symptomatic hemorrhoids who underwent open (Milligan-Morgan) hemorrhoidectomy were enrolled. The experimental group received intrasphincteric Botox injection during hemorrhoidectomy, while the controls received normal saline injection. Hemorrhoid grades, constipation status, history of hemorrhoidectomy, duration of operation, pain at rest and after defecation in six follow-up periods (6, 12, 24, and 48 h and 7 and 14 days after operation), wound healing (during follow-up after discharge with a 2-week period), analgesic use, and Botox side effects were evaluated and compared in the two experimental and control groups. RESULTS: In this trial, 34 and 33 patients were randomly allocated in the experimental and control groups, respectively. Operation time was significantly higher in Botox group (P = 0.009). Mean dose of analgesics use in Botox was significantly lower (P < 0.001). Rate of wound healing during follow-ups was significantly higher in Botox group in the fifth follow-up (P = 0.009). Frequency of urinary retention (P = 0.02) and moderate itching (P = 0.01) was significantly higher in placebo than Botox group. Mean of postoperative pain at rest in Botox group was significantly lower at 12th, 24th, and 48th h and 7th and 14th days after operation (P < 0.01). Mean of postoperative pain in Botox group was significantly lower at 3rd to 5th defecation (P < 0.01). CONCLUSION: Our findings indicated that a single-dose injection of Botox during Milligan-Morgan hemorrhoidectomy is associated with less postsurgical pain at rest and during defecation and improved wound healing. It is suggested that it is a safe and effective procedure during hemorrhoidectomy regarding the procedure-related complications.

Intentional Ingestion of a Metallic Wire Causing Perforation and Retroperitoneal Abscess: A Case Report.

Foreign body ingestion is a frequent condition, with the majority of foreign bodies (FBs) tending to spontaneously proceed along the gastrointestinal tract without any major complications. A wide range of procedures are available to remove FBs; however, a real challenge exists in managing sharp, rigid, and long foreign objects, which are related to higher rates of complications. A 34-year-old man who intentionally swallowed a metallic wire of 20 cm length, presented to our ED with abdominal pain 2 weeks after the ingestion. The FB had migrated to the stomach and duodenum. Complications included perforation of the duodenum and ascending colon and a retroperitoneal abscess. FB removal was done via laparotomy, followed by the repair of perforations and damaged tissues. This case highlights the complications of a FB presence in the gastrointestinal tract for 14 days and emphasizes the importance of urgent and appropriate management of such conditions.

Food intake and attention-deficit/hyperactivity disorder in children: A case_control study.

BACKGROUND: The purpose of present study was to determine and compare food intake in children with attention deficit hyperactivity disorder (ADHD) and healthy children. MATERIALS AND METHODS: In this case-control study, 110 hyperactive children who had referred to Khatam Al-Anbia Clinic and Imam Hussein Psychological Center in Yazd were selected. In addition, for each case, two healthy controls homogenized in terms of age and sexes were enrolled from primary schools in Yazd, from the same urban region of the cases. After completing the general information questionnaires, height and weight were measured. The food intake of individuals was evaluated through a validated food frequency questionnaire comprising 186 items. As for quantitative and categorical variables, the independent t-test and chi-square test were used respectively, and the values were reported as mean and standard deviation. Independent T-test was used to compare food intake between the two groups. RESULTS: No significant difference was identified between body mass index and energy intake of the two groups. Hyperactive children proved to have a higher rate of physical activity than non-hyperactive children (p = 0.001). Vitamin B12 and riboflavin consumption in hyperactive children proved to be significantly lower than that of the healthy group (p = 0.02). Intake of refine grain in the case group was significantly higher compared to the control group (p = 0.02). Healthy children consumed fruits and vegetable (p = 0.02), low fat milk (p = 0.003) and egg (p = 0.01) more than children with ADHD. CONCLUSION: The present study revealed that hyperactive children consume less fruit and vegetables, low-fat milk and eggs as well as food sources containing B vitamins while consuming higher levels of refined grains. Future studies such as cohort and interventional types are needed to confirm these results.

Paratubal endosalpingiosis: a case report.

INTRODUCTION: Endosalpingiosis is a rare condition and its pathogenesis and clinical significance are not fully understood. The unfamiliar presentation of this disease can misguide health care professionals. The reports available on this matter describe it as a disease of older age. In the majority of the cases it is an incidental finding in those with other concurrent gynecologic conditions. PRESENTATION OF CASE: Here we report the case of a 14-year-old female who presented with abdominal pain and no specific past medical history. Imaging and physical examination were highly suggestive of appendicitis. With the initial diagnosis of acute abdomen, she underwent surgery. During the surgery gastrointestinal tract organs were found to be normal and in gynecological examination, the ovaries were normal, however the fallopian tube revealed a twisted paratubal cyst which was removed and sent to the laboratory for further investigation. On the basis of the cellular pathology, tubal like epithelium in the cyst was found and patient diagnosed with endosalpingiosis. DISCUSSION: We suggest that in our case, the lesion possibly originated from the metaplasia of coelomic membrane into tubal cells. There are studies suggesting that co-occuring diseases should be considered when the diagnosis of endosalpingiosis is established and further studies are needed in regard to this matter. CONCLUSION: Endosalpingiosis, although being a rare condition, should be included in our differential diagnosis since co-existing comorbidities are a possibility in patients with endosalpingiosis and can be of great importance.