Objective: To delineate the full phenotypic spectrum of BCS1L-related disease, provide better understanding of the genotype–phenotype correlations and identify reliable prognostic disease markers. Methods: We performed a retrospective multinational cohort study of previously unpublished patients followed in 15 centres from 10 countries. Patients with confirmed biallelic pathogenic BCS1L variants w

Importance: Preterm delivery has been associated with future cardiometabolic disorders in women. However, the long-term risks of chronic hypertension associated with preterm delivery and whether such risks are attributable to familial confounding are unclear. Such knowledge is needed to improve long-term risk assessment, clinical monitoring, and cardiovascular prevention strategies in women. Objec

Using a nonlocal version of the center-manifold theorem and a normal form reduction, we prove the existence of small-amplitude generalized solitary-wave solutions and modulated solitary-wave solutions to the steady gravity-capillary Whitham equation with weak surface tension. Through the application of the center-manifold theorem, the nonlocal equation for the solitary wave profiles is reduced to

Rektalcancer är en sjukdom där behandlingsresultaten förbättrats kraftigt de senaste decennierna. Behandling för ändtarmscancer sker med antingen endast kirurgi eller kirurgi i kombination med onkologisk neoadjuvant behandling. Kirurgisk radikalitet, mikroskopisk marginal mellan tumörvävnad och frisk vävnad, är av stor betydelse för att minska risken för lokalrecidiv och öka överlevnaden

Laser cladding is a promising surface treatment for refurbishing worn-out cast-iron brake rotors. Previous studies on laser-cladded brake rotors have demonstrated their extensively higher wear and greater airborne particle emissions, compared with traditional cast iron rotors. In order to overcome this, a commercial non-asbestos organic (NAO) brake material is tested against Fe-based laser-cladded

Biotechnology and genetic engineering raise a number of new ethical problems. Consequently, over the past 15 years, several European countries, including the Nordic countries, have passed new laws in an attempt to deal with the ethical problems posed by biotechnology. These developments raise the question of how to formulate legislation to regulate both the technical and ethical aspects of biotech

Only rarely is Vietnam's global heavy industry studied from an anthropological perspective in either its gender or its class dimensions. This article contributes new insights into the ways in which the interagential dynamics of gender and technology from shopfloor to engineer offices coproduce social orders in contesting and perpetuating essentializing notions of femininity and masculinity. Blue-c

This article discusses a new form of rituals, marketed as coaching or layman therapeutic practices, focusing on self-development and healing, which rapidly expanded in the early 2000s in Sweden. The targets of these rituals are individuals and workplaces, buying these and similar formalized practices. Questions raised include: How do these rituals reflect the structure of society? How are they desThis article discusses a new form of rituals, marketed as coaching or layman therapeutic practices, focusing on self-development and healing, which rapidly expanded in the early 2000s in Sweden. The targets of these rituals are individuals and workplaces, buying these and similar formalized practices. Questions raised include: How do these rituals reflect the structure of society? How are they des

A wide range of neurological manifestations have been associated with the development of COVID‐19 following SARS‐CoV‐2 infection. However, the etiology of the neurological sympto-matology is still largely unexplored. Here, we used state‐of‐the‐art multiplexed immunostaining of human brains (n = 6 COVID‐19, median age = 69.5 years; n = 7 control, median age = 68 years) and demonstrated that express

Media combinations of different basic media types are always, literally, intermedial combinations that involve intermedial relations between different forms of communication. This chapter looks at how words and images on pages convey a graphic narrative in comics. In the specific case of comics, scholars have attempted to categorize different types of interaction between words and images, which cr

Debatten om ”trigger warnings” och ”trygga rum” berör alla universitetslärare, även dem som aldrig ställts inför dylika krav från studenter. Med utgångspunkt i den uppmärksammade konflikten på sexologutbildningen vid Malmö universitet våren 2021 diskuterar essän vad så kallade trigger warnings och trygga rum är, och hur lärare i högre utbildning kan förhålla sig till studenters föreställningar kri

Cells synthesize proteins using 20 standard amino acids and expand their biochemical repertoire through intricate enzyme-mediated post-translational modifications (PTMs). PTMs can either be static and represent protein editing events or be dynamically regulated as a part of a cellular response to specific stimuli. Protein histidine methylation (Hme) was an elusive PTM for over 5 decades and has on