Adamsenquinlan1472

Myocardial infarction with non-obstructive coronary arteries (MINOCA) is a recently described, clinically significant entity, with prevalence rates ranging from 1% to 14% and a mean of 6% of all patients with myocardial infarction. Antiphospholipid syndrome (APS; Hughes syndrome) is characterized by the presence of antiphospholipid antibodies associated with thrombosis (arterial and/or venous) and/or pregnancy morbidity and could be the cause of MINOCA. Data on genetic predisposition to APS are scarce. The present study describes a unique case of monozygotic twin brothers who, at a young age, developed the same clinical presentation of APS. The diagnosis of APS was later confirmed, along with a diagnosis of systemic lupus erythematosus in one brother.BACKGROUND Meningeal carcinomatosis is rare in patients with kidney cancer and treatment options are limited. Few patients treated with systemic approaches have been reported. We describe a case of complete remission of leptomeningeal metastasis in a patient with renal cell carcinoma treated with nivolumab. To our knowledge, this is the first report of nivolumab safety and efficacy in this particular site of metastasis. CASE PRESENTATION Our patient was a 60-year-old Caucasian man with bone and lung metastases from renal cell carcinoma. He developed leptomeningeal metastasis and progression of bone and lung lesions after only 2 months of his first-line treatment. He was then treated with nivolumab in second-line setting and experienced a rapid improvement of cancer-related symptoms, complete remission of leptomeningeal and lung lesions, and increased bone mineral density in bone metastasis. The patient did not experience any drug-related toxicity. CONCLUSIONS Meningeal carcinomatosis metastasis from renal cancer is a rare condition. Diagnosis is often challenging the onset of nonspecific presenting symptoms could be initially attributed to bone involvement, side effects of oncologic therapy, or paraneoplastic syndromes. Our case suggests that nivolumab could be an effective and safe treatment option in patients with pretreated renal cancer with leptomeningeal metastasis.RT-QuIC is a shaking-based cyclic amplification technique originally developed in the prion field to detect minute amounts of scrapie prion protein (PrPSc). In this study, we applied the RT-QuIC assay to investigate a-synuclein (a-syn) seeding activity in brains of Dementia with Lewy Body (DLB) patients and in brains of G2-3 transgenic mice expressing human a-syn with A53T mutation. The results show that a-syn seeding activity varies between patients with detectable dilutions ranging from 10-3 to 10-8 dilutions of brain tissue and is stable under exposures to the cycles of freezing, thawing and sonication. A53T a-syn aggregates from G2-3 transgenic mice greatly favoured A53T recombinant human a-syn as substrates in comparison to wild-type a-syn, suggesting that conformations for wild-type a-syn to be able to adopt are not compatible with that of A53T aggregates from G2-3.Less than 1% of biomedical research papers originate in Africa. Locally relevant mental health research, including synthesis of existing evidence, is essential for developing interventions and strengthening health systems, but institutions may lack the capacity to deliver training on systematic reviewing for publication in international journals. This paper describes the development and implementation of a training-of-trainers (ToT) course on systematic reviewing. The ToT prepared junior faculty ('trainers') from universities in Ethiopia, Malawi, and Zimbabwe to lead a five-day systematic reviewing workshop. Pinometostat Using an evaluation framework based on implementation science outcomes, the feasibility of the ToT was assessed by tracking the number of workshops the trainers subsequently conducted and the number of trainers and trainees who participated; acceptability was assessed through post-workshop surveys on trainee perspectives; impact was evaluated through trainee scores on a 15-item multiple choice test on sysability of research capacity building programs that often have time-limited grant funding.Approximately 5% of all cases of papillary thyroid cancer (PTC) are inherited. However, the susceptibility gene(s) for nonsyndromic familial PTC (FPTC) remain unclear. We performed whole genome sequencing of peripheral blood DNA samples from two affected family members with PTC. CHEK2 transcript expression and the protein levels of CHK2 and p53 were evaluated in the thyroid tissues from two affected members of the kindred and sporadic PTC cases. The entire CHEK2 coding sequence was examined by Sanger sequencing in blood DNA samples from 242 sporadic PTC patients. We identified a novel heterozygous germline mutation in CHEK2 (c.417C→A) that was detected in all available affected members of a kindred with FPTC. This variant was found in only 1 out of 264,200 persons in the Genome Aggregation Database and the NHLBI Trans-Omics for Precision Medicine program. The CHEK2 c.417C→A variant introduces a premature termination codon (Y139X). We found reduced CHK2 protein expression in tumor samples from the two patients who carried the variant as compared with sporadic cases without the variant. The Y139X loss-of-function variant led to reduced p53 phosphorylation and decreased p53 protein level. In addition, two rare missense variants (R180C and H371Y) in CHEK2 were identified in 5 (2%) of 242 patients with sporadic PTC. Our findings suggest that the CHEK2 Y139X variant may be associated with FPTC.In recent years, loneliness has become widely recognized as a public health issue that impacts negatively both on physical and on psychological health, even increasing the risk of mortality. This article focuses on the relationships between social connection, loneliness, and meaning in life that emerged from a study of suicide website visitors and interviews with Japanese college students. It poses three questions (1) Is the need to be needed and the strong desire for meaning in life unique to suicide website visitors or shared by Japanese college students? (2) Are the need to be needed and the need for meaning in life two separate types of mental pain that lead to loneliness, or are they interrelated?, and (3) What does meaning in life look like for Japanese college students? The interviews indicate that Japanese college students greatly value being needed and that they connect it closely to a sense of meaning in life. They exhibit a great fear of loneliness and understand meaning in life in a highly relational manner, rather than a cognitive one.