Familial isolated GH deficiency type II (IGHD-II) is an autosomal dominant disorder that has been previously shown in some patients to be caused by heterogeneous GH gene defects that affect GH messenger RNA (mRNA) splicing. We report here our finding of multiple G-->A transitions of the first base of the donor splice site of IVS 3 (+ 1G-->A) in IGHD II subjects from three nonrelated kindreds from

OBJECTIVES: To examine cardiovascular autonomic function in middle-aged people with long-term cervical and upper thoracic spinal cord injury (SCI) compared with the general population, and explore if the neurological level of injury (NLI) is related to cardiovascular autonomic function.DESIGN: Population-based cross-sectional study with matched controls.SETTING: Outpatient SCI unit in Southern Swe

In this study, we investigated the prevalence of mental disorders and the use of psychopharmacologic drugs among individuals with cerebral palsy (CP). We studied how the association between CP and mental illness develops over the life course (between ages 5 and 65 years), and how it varies across disability specific factors (intellectual disability, gross motor function and communicative ability).

Background: This project plan proposes a new learning activity and assessment model of medical students' empathy and communication skills. An empathic ability and communication skills are crucial in a student future role as a physician. Empathy and communication skills are also Entrustable Professional Activities in most undergraduate medical educational programs1.Method: The students are first in

Recently, it has been proposed that the luminescence sensitivity of quartz grains, i.e. their luminescence response to unit dose, might be used for sediment fingerprinting. Sensitivity is determined both by the origin of quartz grains and the sedimentary processes they underwent. However, a more detailed understanding of the factors influencing sensitivity is essential in order to expand and speci

Turner syndrome (TS) is a genetic condition characterized by partial or complete monosomy X. A reduced life expectancy has been shown in TS, depending on an increased risk of aortic dissection, and ischemic heart disease. Studies covering the occurrence of psychiatric conditions are sparse within TS. Several case reports describe concomitant TS and neuropsychiatric abnormalities that may represent

Hemozoin (Hz) is a heme crystal produced during malaria infection that stimulates immune cells, leading to the production of cytokines and chemokines. The immunostimulatory action of Hz has previously been applied in the development of alternative adjuvants. Crystallization of hemin is a chemical approach for producing Hz. Here, we focused on an enzymatic production method for Hz using the heme de

Background: The tumoricidal complex alpha1-oleate targets bladder cancer cells, triggering rapid, apoptosis-like tumor cell death. Clinical effects of alpha1-oleate were recently observed in patients with non-muscle invasive bladder cancer (NMIBC), using a randomized, placebo-controlled study protocol. Aims: To investigate if there are dose-dependent effects of alpha1-oleate. Materials and Methods

This comparative study delves into the intricate challenges surrounding stigma within active labor market programs (ALMPs) and its implications for work, wellbeing, and social policy. In both Sweden and Australia, employers exhibit reluctance to draw from this candidate pool for recruitment. Understanding employers' reasons for not utilising ALMP candidates, their expectations from candidates, and

When deploying deep neural networks on robots or other physical systems, the learned model should reliably quantify predictive uncertainty. A reliable uncertainty allows downstream modules to reason about the safety of its actions. In this work, we address metrics for uncertainty quantification. Specifically, we focus on regression tasks, and investigate Area Under Sparsification Error (AUSE), Cal

Modern robotic perception is highly dependent on neural networks.It is well known that neural network-based perception can be unreliable in real-world deployment,especially in difficult imaging conditions.Out-of-distribution detection is commonly proposed as a solution for ensuring reliability in real-world deployment.Previous work has shown that normalizing flow models can be used for out-of-dist

Complex forms of quantum entanglement can arise in two qualitatively different ways: either between many qubits or between two particles with higher-than-qubit dimension. While both the many-qubit frontier and the high-dimension frontier are well established, state-of-the-art quantum technology is becoming increasingly able to create and manipulate entangled states that simultaneously feature many

BACKGROUND The possible existence of an acini–islet–acinar (AIA) reflex, involving mutual amylase and insulin interactions, was investigated in the current acute experiment on pigs. AIM To confirm the existence of an AIA reflex and justify the placement of the exocrine and endocrine pancreatic components within the same organ. METHODS The study was performed on six pigs under general anesthesia. A

Translation-targeting toxic small alarmone synthetases (toxSAS) are effectors of bacterial toxin-antitoxin systems that pyrophosphorylate the 3'-CCA end of transfer RNA (tRNA) to prevent aminoacylation. toxSAS are implicated in antiphage immunity: Phage detection triggers the toxSAS activity to shut down viral production. We show that the toxSAS FaRel2 inspects the tRNA acceptor stem to specifical

Background. Medulloblastoma (MB) is one of the most common malignant brain tumors in children. Current treatments have increased overall survival but can lead to devastating side effects and late complications in survivors, emphasizing the need for new, improved targeted therapies that specifically eliminate tumor cells while sparing the normally developing brain. Methods. Here, we used a sonic he