Bartonella species are an emerging cause of culture-negative endocarditis with more cases being diagnosed now than 25 years ago when Bartonella quintana endocarditis was first described in a patient infected with human immunodeficiency virus (HIV). Despite the disease being increasingly reported, the exact epidemiological features are not clear, with prevalence rates ranging between 2% and 10% of all cases of culture-negative endocarditis. Moreover, the mortality rate is still high, presumably because of the subacute nature and relative rareness of the disease. Bartonella endocarditis occurs more often in men, and previous valvular surgery is a major risk factor. There is insufficient data to guide definitive treatment due to the paucity of literature. A previous study demonstrated that effective antibiotic therapy for Bartonella endocarditis should include an aminoglycoside prescribed for a minimum of 2 weeks. However, the treatment strategy is a matter of expert opinion. Bartonella endocarditis is considered one of the most common causes of culture-negative endocarditis, yet tardy diagnosis of the disease is usually made, thus carrying a high mortality rate.Awareness of the unusual presentation of Bartonella endocarditis could potentially decrease complications and mortality rates.Contact with animals, and cats in particular, is a prominent risk factor for Bartonella henselae infection. Physicians should therefore routinely enquire about such exposure when endocarditis and especially culture-negative endocarditis is suspected.Empirical therapy should be started when culture-negative endocarditis is suspected and even when Duke criteria are not met; watchful waiting for final serological tests might be harmful, as recommended by some international authors.Most organisms causing culture-negative endocarditis are not covered in the initial treatment of infective endocarditis before or without pathogen identification recommended by the European Society of Cardiology.

POT1 (Protection of Telomeres 1) is a key component of the six-membered shelterin complex that plays a critical role in telomere protection and length regulation. Germline variants in the POT1 gene have been implicated in predisposition to cancer, primarily to melanoma and chronic lymphocytic leukemia (CLL). We report the identification of POT1 p.(I78T), previously ranked with conflicting interpretations of pathogenicity, as a founder pathogenic variant among Ashkenazi Jews (AJs) and describe its unique clinical landscape. A directed database search was conducted for individuals referred for genetic counselling from 2018 to 2023. Demographic, clinical, genetic, and pathological data were collected and analyzed. Eleven carriers, 25 to 67 years old, from ten apparently unrelated families were identified. Carriers had a total of 30 primary malignancies (range 1–6); nine carriers (82%) had recurrent melanoma between the ages of 25 and 63 years, three carriers (27%) had desmoid tumors, three (27%) had papillary thyroid cancer (PTC), and five women (63% of female carriers) had breast cancer between the ages of 44 and 67 years. Additional tumors included CLL; sarcomas; endocrine tumors; prostate, urinary, and colorectal cancers; and colonic polyps. A review of a local exome database yielded an allelic frequency of the variant of 0.06% among all ethnicities and of 0.25% in AJs. A shared haplotype was found in all carriers tested. POT1 p.(I78T) is a founder disease-causing variant associated with early-onset melanoma and additional various solid malignancies with a high tumor burden. We advocate testing for this variant in high-risk patients of AJ descent. The inclusion of POT1 in germline panels for various types of cancer is warranted.

Background: Pancreatic cancer has a high mortality rate worldwide. Most patients progress to advanced stages, often with metastasis, resulting in a low survival rate. Despite advancements in surgical and oncological treatments, early diagnosis and better risk stratification remain critical. Methods: This retrospective cross-sectional study focused on analyzing data from patients undergoing pancreaticoduodenectomy for pancreatic adenocarcinoma, in order to determine whether the neutrophil-to-lymphocyte ratio (NLR) and other immune–inflammatory markers, such as the systemic immune–inflammation index (SII) and prognostic nutritional index (PNI), can predict postoperative complications and survival outcomes. Results: Analysis of 136 patients revealed that a higher NLR (≥2.5) was significantly associated with longer overall survival (39 months, IQR: 17–100 months; p = 0.004), compared to lower NLR (<2.5; 18 months, IQR: 9–39 months). Higher SII (≥600) was also associated with significantly improved survival (34 months, IQR: 17–114 months; p = 0.001) compared to lower SII (<600; 20 months, IQR: 9–45 months). No significant differences were observed in postoperative complications or other clinical outcomes between NLR groups, although a trend toward more complications in the higher NLR group was noted (p = 0.06). PNI showed no significant impact on survival (PNI < 38.8: 22 months, IQR: 14–60 months; PNI ≥ 38.8: 33 months, IQR: 14–115 months; p = 0.1) or complications (p = 0.8). Conclusions: Our study highlights the prognostic utility of NLR and SII in patients with adenocarcinoma of the head of the pancreas undergoing pancreaticoduodenectomy. Regarding complications, there were no significant differences across groups stratified by NLR, SII, or PNI, suggesting that while NLR and SII are valuable for predicting long-term oncological outcomes in patients undergoing pancreaticoduodenectomy for adenocarcinoma of the head of the pancreas, they may not be reliable indicators of immediate postoperative morbidity.

Founder pathogenic variants (PVs) are prevalent in Israel. This study investigated the current practice of offering cancer patients two-step genetic testing, starting with targeted testing for recurring founder PVs, followed, if negative, by next-generation sequencing. A total of 2128 subjects with cancer or a positive family history underwent oncogenetic testing with a panel of 51 recurring PVs at a tertiary medical center in March 2020–January 2023. Those with a known familial PV (n = 370) were excluded from the analysis. Among the remainder, 128/1758 (7%) were heterozygous for at least one variant, and 44 (34%) carried a PV of medium-high penetrance (MHPV). Cancer was diagnosed in 1519/1758 patients (86%). The diagnostic yield of founder MHPV testing was 2% in cancer patients and 4% in healthy individuals with a positive family history. It was higher in Ashkenazi Jews than non-Ashkenazi Jews and Arabs, but not over 10% for any type of cancer, and it was significantly higher in younger (50 years) individuals (7% vs. 1%). Eighty-four of the heterozygotes (66%), mostly Ashkenazi Jews, harbored a low-penetrance variant (LPV) not associated with the diagnosed cancer, usually APC c.3902T>A. These findings question the advantage of two-step testing. LPVs should not be included in targeted testing because this can lead to an overestimation of the yield, and their detection does not preclude further comprehensive testing.

(1) Background: Over the past several years, there has been a renewed interest with regard to the effect of pre-operative vitamin D levels on post-surgical outcomes. Pre-operative vitamin D deficiency has been associated with many negative post-operative outcomes. However, the role of vitamin D in postoperative outcomes in colorectal liver metastasis (CRLM) resection is relatively uninvestigated. Our study investigated the correlation between preoperative vitamin D levels and postoperative complications in patients undergoing resection for CRLM. (2) Methods: We retrospectively examined the post-operative course of 109 patients, who were evaluated based upon preoperative vitamin D levels: the first group had vitamin D levels less than 25 nmol/L (VIT D < 25 nmol/L) (n = 12) vs. the second group who had vitamin D levels equal to or greater than 25 nmol/L (VIT D ≥ 25 nmol/L) (n = 97). (3) Results: Patients with lower pre-operative vitamin D levels (VIT D < 25 nmol/L) had significantly higher rates of blood transfusions (33.3% vs. 10.3%, p = 0.01), post-operative surgical complications (50% vs. 17.5%, p = 0.009), and infectious complications (25% vs. 7.2%, p = 0.04). However, there was no difference in overall survival seen between the two groups. (4) Conclusions: The results of our study indicate that patients with preoperative vitamin D deficiency (defined as preoperative vitamin D levels less than 25 nmol/L) may have an increased risk of postoperative complications in patients undergoing liver surgery for metastatic colorectal cancer.