Lynch syndrome, also known as hereditary non-polyposis cancer syndrome, represents the most common autosomal dominant genetic predisposition for the early onset development of several malignancies. Nearly three decades ago, the discovery of microsatellite instability, a distinctive feature of pathogenic variants within genes encoding mismatch repair proteins, marked a significant leap forward in understanding cancer biology and the underlying spectrum of cancers triggered by these mutations – typical of Lynch syndrome. In recent years, a new treatment paradigm, using immune checkpoint inhibitors, as well as preventive measures has drastically improved the survival rates. Identifying individuals with an inherent predisposition to cancer, through diagnostic protocols followed by personalized screening and treatment algorithms, holds the potential to mitigate premature cancer-related fatalities as well as preventable mortality. It is estimated that only a limited number of patients have been diagnosed, underscoring the importance of implementing specific screening programs for early detection of malignancies to which these patients are susceptible. This article aims to underline the importance of a national protocol tailored to guide a Western-inspired practice for Lynch syndrome patient management, the main aim of the Romanian Society for Lynch Syndrome, by providing an overview of similar initiatives throughout the world.
Obesity affects the population worldwide. A hypercaloric diet associated with a sedentary life, stress, and genetic background, triggers various metabolic disorders, such as metabolic syndrome, diabetes mellitus, cancer, cardiovascular diseases, non-alcoholic fatty liver disease, and cognitive impairment. A healthy diet correlated with physical activity, not smoking, and moderate alcohol consumption reduces the risk of developing metabolic diseases. The Mediterranean diet contains antioxidants, fiber, polyunsaturated fats, and compounds with anti-inflammatory, anti-oxidant, anti-cancer, and anti-obesity properties. In a wide variety of species including humans, the reduction of calories between 20-40% significantly improves health, increases longevity, and delays the development of various pathologies. The main aim of this review is to present the comparative effects of the Mediterranean diet versus the hypercaloric diet on insulin sensitivity.
We aim to introduce a 2022 update on CHD (carcinoid heart disease) considering a multidisciplinary perspective. This is a narrative mini-review. We searched English, full-length papers (PubMed). Inclusion criteria: original articles regardless of the level of statistical significance. We identified 44 papers and manually selected those with CHD, as follows: 8 original studies, 1 case series (N=9 patients), 16 case reports (N=1 patient/paper), and a total of 1,030 patients on published studies. The most remarkable results are the longest period of enrolment of 3-4 decades; CHD ratio among carcinoid syndrome of 37%; 30-day mortality post-cardiac surgery of 12%; median survival in CHD from 1.3 to 3.9 years (more than 2 years if valve intervention is provided); most useful prognostic markers: 5HIIA, NT-pro-BNP, but, potentially, chromogranin A. The specific protective role of somatostatin analogs against developing CHD is yet to be determined. CHD in the absence of carcinoid syndrome/liver metastasis may be related to ovarian NEN (neuroendocrine neoplasia) with a better outcome if prompt intervention. Remarkably, 3 guidelines are released regarding CHD on behalf of ENETS (European Neuroendocrine Tumor Society), and ESC (European Society of Cardiology). CHD still represents a most challenging entity situated at the crossroads of surgery, cardiology, oncology, endocrinology, and gastroenterology.
Multiple sclerosis is a chronic autoimmune disease, characterized by the appearance of demyelinating lesions with inflammatory character in the CNS. Given the unpredictable evolution of the disease, numerous attempts have been initiated to find some pathogenic factors and by default targeted treatment methods. The intestinal microbiota of these patients is often significantly altered compared to the healthy population and given the complex connections between the intestine and the central nervous system, the idea of causality between dysbiosis and this condition was launched. The intestinal mucosa represents the interface between the external environment and the organism, so that it is considered the starting point of some local immunological processes but with systemic resonance, especially neurological. The classic medication scheme widely used to treat MS nowadays can also affect the integrity of the intestinal mucosa by breaking the fine balance at this level. Data from recent studies around the subject open new treatment opportunities around preserving the intestinal microbiota and strategies like vitamin A intake and fat-soluble vitamin D supplementation, probiotic complexes or faecalis microbiota transplantation appear more promising and easier to apply in daily clinical practice.
Background: Neuroendocrine tumors of the pancreas (NTP) comprise a unique and relatively rare group of tumors, of which gastrinoma and insulinoma are the most common types. Insulinomas tend to be small, solitary and benign, with surgical resection curable in most cases. Introduction: Insulinomas are localized preoperatively using conventional imaging studies as transabdominal ultrasonography (US), computed tomography (CT), and/or magnetic resonance imaging (MRI). Purpose: Endoscopic ultrasound (EUS) is a valuable tool in the diagnosis of insulinomas. Goals & methods: We performed a retrospective study on 21 patients with insulinoma (6 male and 15 female, 25 to 73 years of age), who were hospitalized and operated on between 2003 and 2012 at “Dr. Carol Davila” Central Military Emergency University Hospital, Bucharest. Results: US view was positive in 10% of patients (2 of 20), that presented proximal location. The sensitivity of CT was unsatisfactory, 21.05% (4 positive results of 19). CT failed to detect liver metastases, but identified nodal metastasis in one patient. MRI was performed in 18 patients and was diagnostic in 11 of them, recording a detection sensitivity of 61.11%, including infra- centimetric tumor size. EUS has a high resolution which allows detection of lesions with very small diameter is safe and minimally invasive. EUS was performed in all patients, being able to identify formations in 17, was inconclusive in 3, showing a diagnosis sensitivity of 81%. Liver metastases were demonstrated in 3 patients, one by US and all 3 by MRI. Conclusions: - CT with intravenous iodinated contrast agent had a poor sensitivity in detecting the primary tumors, was insensitive in detecting liver metastases, but showed metastases in lymph nodes. - MRI has higher sensitivity than CT in detecting primary tumors, including insulinomas with infracentimetric size, and is the imaging test of choice for possible liver metastases. - EUS is the preoperative imaging test of choice.
