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Neurodegenerative disorders are an increasingly common and irreversible burden on society, often affecting the aging population, but their etiology and disease mechanisms are poorly understood. Studying monogenic neurodegenerative diseases with known genetic cause provides an opportunity to understand cellular mechanisms also affected in more complex disorders. We recently reported that loss-of-fu
In order to find out whether an interval appendectomy is necessary after an appendicitis with a palpable mass, we retrospectively studied the reports of 50 patients who underwent an interval appendectomy. Out of the 50 patients 5 (10%) developed complications of the appendiceal mass. Intraoperative findings of the interval appendectomy: 32 (64%) had adhesions; 2 (4%) appendices were resorbed; 2 (4
We prove that unary Sherali-Adams requires proofs of size nΩ(d) to rule out the existence of an nΘ(1)-clique in Erdős-Rényi random graphs whose maximum clique is of size d ≤ 2 log n. This lower bound is tight up to the multiplicative constant in the exponent. We obtain this result by introducing a technique inspired by pseudo-calibration which may be of independent interest. The technique involves
The successful economic performance of Pacific Asia is often held as a source of inspiration for aspiring catching-up countries. Notwithstanding, recent literature suggests that a key to the understanding of successful long-term economic performance lies not only in the ability to generate economic growth, but in limiting incidences of economic shrinking. Such analyses to explain the Asian economi
In mitosis, most transcription factors detach from chromatin, but some are retained and bookmark genomic sites. Mitotic bookmarking has been implicated in lineage inheritance, pluripotency and reprogramming. However, the biological significance of this mechanism in vivo remains unclear. Here, we address mitotic retention of the hemogenic factors GATA2, GFI1B and FOS during haematopoietic specifica
Improvements in metabolite-profiling techniques are providing increased breadth of coverage of the human metabolome and may highlight biomarkers and pathways in common diseases such as diabetes. Using a metabolomics platform that analyzes intermediary organic acids, purines, pyrimidines, and other compounds, we performed a nested case-control study of 188 individuals who developed diabetes and 188
Objective. The association between smoking and idiopathic inflammatory bowel disease is well known; smoking seems to have a diverse effect. Crohn's disease is associated with smoking, while ulcerative colitis is associated with non-smoking. Data on smoking in microscopic colitis of the collagenous type (CC) are lacking. The aim of this investigation was to study smoking habits in CC and to observe
Popular science summary: Is RpS6 activation important for leukemia cell progression? Acute Myeloid Leukemia (AML) is the most common acute blood cancer in adults. It is characterized by a rapid increase of leukemic cells in the bone marrow, compromising the development of new blood cells. Despite improvement in treatments and advancements in supportive care, the overall 5-years survival of AML i
The so-called Substituted Judgment Standard is one of several competing principles on how certain health care decisions ought to be made for patients who are not themselves capable of making decisions of the relevant kind. It says that a surrogate decision-maker, acting on behalf of the patient, ought to make the decision the patient would have made, had the latter been competent. The most common
The term “existential” is nowadays used in connection with different kinds of threat, risk and hazard–sustainability discourse included. Loss of certain forms of existence, potential, conditions and values have all been claimed to be incompatible with existential dimensions of sustainability (or “existential sustainability”, for short). In order to clarify the notion(s) of existential sustainabili
Primary hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disorder associated with autosomal recessive variants in genes required for perforin-mediated lymphocyte cytotoxicity. A rapid diagnosis is crucial for successful treatment. Although defective cytotoxic T lymphocyte (CTL) function causes pathogenesis, quantification of natural killer (NK)–cell exocytosis triggered by K562 targe
