Breast cancer is one of the most common malignancies and the leading cause of death among women worldwide. About 20% of breast cancers are hereditary. Approximately 30% of the mutations have remained negative after testing BRCA1/2 even in families with a Mendelian inheritance pattern for breast cancer. Additional non-BRCA genes have been identified as predisposing for breast cancer. Multi gene panel testing tries to cover and explain the BRCA negative inherited breast cancer, improving efficiency, speed and costs of the breast cancer screening. We identified 23 studies reporting results from individuals who have undergone multi gene panel testing for hereditary breast cancer and noticed a prevalence of 1-12% of non-BRCA genes, but also a high level of variants of uncertain significance. A result with a high level of variants of uncertain significance is likely to be more costly than bring benefits, as well as increase the anxiety for patients. Regarding further development of multi gene panel testing, more research is required to establish both the optimal care of patients with cancer (specific treatments like PARP inhibitors) and the management of unaffected individuals (chemoprevention and/or prophylactic surgeries). Early detection in these patients as well as prophylactic measures will significantly increase the chance of survival. Therefore, multi gene panel testing is not yet ready to be used outside clear guidelines. In conclusion, studies on additional cohorts will be needed to better define the real prevalence, penetrance and the variants of these genes, as well as to describe clear evidence-based guidelines for these patients.

Light is a fundamental aspect of our lives, being involved in the regulation of numerous processes in our body. While blue light has always existed in nature, with the ever-growing number of electronic devices that make use of short wavelength (blue) light, the human retina has seen increased exposure to it. Because it is at the high-energy end of the visible spectrum, many authors have investigated the theoretical harmful effects that it poses to the human retina and, more recently, the human body, given the discovery and characterization of the intrinsically photosensitive retinal ganglion cells. Many approaches have been explored, with the focus shifting throughout the years from examining classic ophthalmological parameters, such as visual acuity, and contrast sensitivity to more complex ones seen on electrophysiological assays and optical coherence tomographies. The current study aims to gather the most recent relevant data, reveal encountered pitfalls, and suggest future directions for studies regarding local and/or systemic effects of blue light retinal exposures.

Retinal degenerative processes such as age-related macular degeneration are at the center of many ongoing research studies, as their impact on the general population is significant, with severe visual impairment and even irreversible vision loss if left untreated. Currently, there are few efficient treatments available to stop or limit its progression. In the present paper, a molecular hybridization approach was employed to develop novel compounds that address this issue. By adding either 2-butenal or a β-ionone-derived residue to the hydrazone-catechol-thiazole scaffold, two compounds were designed and synthesized: 5a and 5b. After being characterized by mass spectrometry and nuclear magnetic resonance, and proving potent antioxidant activity in the in vitro assays, the cytotoxicity evaluation using the ARPE-19, BJ, and A549 cell lines revealed a surprisingly low-dose effect of 5a and the unexpected cytotoxic activity of 5b, despite its β-ionone moiety, known for its significant therapeutic properties.

Gastric heterotopia is defined as the presence of morphologically normal gastric tissue at a non-physiological site, coexisting with the original tissue. Although it is not uncommon to see it in the esophagus, duodenum or small intestine, it is exceptionally rare to discover gastric mucosa in the rectum. Here we report the case of a 46-year old male with a 10-year history of ulcerative colitis in whom the surveillance rectosigmoidoscopy detected a Mayo score of 1 for ulerative colitis activity and a middle rectal sessile polyp. Pathological examination revealed an active chronic colitis, and rectal mucosa with heterotopic gastric mucosa composed of oxyntic glands was depicted. A month later, the patient was reevaluated and endoscopic mucosal resection was performed. Histology confirmed the gastric body type mucosa co-mingling with rectal mucosa.

Background and Clinical Significance: Currently, the only effective treatment for cataracts is surgery. The most commonly employed method is phacoemulsification, a well-established procedure that uses ultrasound energy to fragment the lens, allowing for easier removal. Potential postoperative complications range from mild to severe corneal edema (pseudophakic bullous keratopathy), which may be caused by intraoperative endothelial cell damage, to the rare formation of iris cysts. Case Presentation: In this paper, we report the case of a patient who underwent cataract surgery in both eyes, where iris incarceration occurred during the surgical procedure, resulting in corneal edema and an iris cyst, both in the left eye. Secondary iris cysts are uncommon following phacoemulsification, with only a few cases reported in the recent literature. The cyst’s impact on corneal edema was unexpected, making this case particularly noteworthy and emphasizing the complexity of cataract surgery and its postoperative complications. Conclusions: This case illustrates the unique interaction between two infrequent complications of cataract surgery.