Early Onset Inflammatory Bowel Disease Due to Immunodeficiency as a Result of ICOS Gene Homozygous Mutation.

INTRODUCTION: Inflammatory bowel disease (IBD) is classified as very early-onset IBD (VEO-IBD) if it occurs before age six. VEO-IBD may progress with more severe and resistant inflammation findings in the gastrointestinal and non-gastrointestinal systems. CASE REPORT: We describe the clinical presentation of a 4-year-old female presenting with recurring episodes of bloody diarrhea, vomiting, abdominal pain, fever, arthritis, erysipelas, and bilateral ankle pain. Monogenic primary immunodeficiency (PID) was suspected due to her age, different clinical findings and the presence of atypical gastroscopic findings and deep transmural ulcerations resembling Crohn's disease. The gene analysis showed a homozygous mutation in the inducible T cell co-stimulator (ICOS) deficiency genes. DISCUSSION/CONCLUSION: This case presentation shares our clinical experience and demonstrates the link between IBD progression and ICOS deficiency.

Muir-Torre Syndrome with Novel Mutation in the MSH2 Gene.

Muir-Torre syndrome (MST) is a rare autosomal dominant subtype of hereditary non-polyposis colorectal carcinoma. The diagnosis is established based on the coexistence of sebaceous gland tumors and visceral organ malignancies. Mutations in the mismatch repair genes are responsible for Muir-Torre syndrome. Internal malignancies seen in MTS are most commonly colorectal, gastrointestinal system, endometrial, genitourinary system, breast, lung, brain, and hepatobiliary system malignancies. Detection of sebaceous neoplasia is essential in investigating Muir-Torre syndrome, allowing early detection of internal malignancies. Herein, we present the case of a patient with sebaceous adenomas, internal malignancies, and a new mutation detected during the genetic examination.

Is there a survival difference between older adult and younger adult patients with locally advanced gastric cancer with the same lymph node ratio?

INTRODUCTION: The aim of this study was to clarify the prognostic value of the pathological lymph node ratio for older adult and younger adult gastric cancer patients and to evaluate whether there is a difference in the survival of patients with the same lymph node ratio (LNR). MATERIALS AND METHODS: A total of 222 patients diagnosed with locally advanced gastric cancer who underwent upfront gastrectomy without neoadjuvant chemotherapy and had negative surgical margins were included. The patients were divided into two groups according to age. Clinicopathological properties of the two groups were compared. Potential prognostic factors affecting survival were analyzed. Subsequently, the effect of lymphadenectomy and LNR on survival in both groups was evaluated. RESULTS: Thirty patients with perioperative mortality were excluded and 192 patients were analyzed. Significant differences were detected in terms of hemoglobin and albumin levels between older adult patients and younger adult patients (p < 0.05). Overall survival (OS) was significantly worse in older adult patients (22 months vs. 67 months, p < 0.001). The survival rates in older adult patients were significantly lower from those of younger adult in the subgroup LNR Stage 2 (12.1% vs. 47.9%, p = 0.004) and LNR Stage 3 classification (9.1% vs. 34.1%, p = 0.039). LNR was found to be significant for OS with a cut-off point of 0.18. DISCUSSION: A survival difference was found between the older adult and younger adult patients with the same LNR. LNR was found to be an independent factor for survival especially in older adult patients. Survival was found to be further decreased in older adult patients compared to younger adult patients with increasing LNR.

Symptom-related Ki-67 expression in endometrial polyps.

OBJECTIVE: The aim of this study was to compare Ki-67 expression in endometrial polyps that present with different abnormal uterine bleeding patterns. STUDY DESIGN: A total of 120 women diagnosed with endometrial polyps were included in the study. In this prospective study, tissue samples taken by hysteroscopic polypectomy method between September 2019 and September 2020 at Bursa City Hospital were examined. The main study groups were determined as premenopausal and postmenopausal patients. The patients' complaints at first admission to the hospital, demographic, histopathological and immunohistochemical features were recorded. RESULTS: Ki-67 glandular and stromal expressions were higher in the premenopausal patient group (p = 0.016 and p = 0.005 respectively). Median Ki-67 gland and stroma measurements; was higher in patients with heavy menstrual bleeding (HMB) than in patients with intermenstrual bleeding (IMB), patients with postmenopausal bleeding (PMB), and patients who were asymptomatic [(p = 0.012, p = 0.011 and p = 0.009 respectively); (p < 0.001, p < 0.001 and p = 0.004 respectively)]. The median Ki-67 stroma measurement was found to be higher in the patient group whose complaint persisted after polypectomy (p = 0.034). In the estimation of response to treatment, the cut-off value for Ki-67 stromal expression was determined as ≤ 6%. CONCLUSION: High Ki-67 expression in endometrial polyps is associated with HMB and may predict the continuation of abnormal uterine bleeding after polypectomy.