Functional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased risk of colorectal cancer.

Background: Individuals with cystic fibrosis (CF; a recessive disorder) have an increased risk of colorectal cancer (CRC). Evidence suggests individuals with a single CFTR variant may also have increased CRC risk.

Methods: Using population-based studies (GECCO, CORECT, CCFR, and ARIC; 53 785 CRC cases and 58 010 controls), we tested for an association between the most common CFTR variant (Phe508del) and CRC risk.

Automated surveillance of antimicrobial consumption in intensive care, northern Sweden: an observational case study.

Background: The digitalization of information systems allows automatic measurement of antimicrobial consumption (AMC), helping address antibiotic resistance from inappropriate drug use without compromising patient safety.

Objectives: Describe and characterize a new automated AMC surveillance service for intensive care units (ICUs), with data stratified by referral clinic and linked with individual patient risk factors, disease severity, and mortality.

Methods: An automated service collecting data from the electronic medical record was developed, implemented, and validated in a healthcare region in northern Sweden.

Assessing the Impact of Tropicamide on Anterior Segment Parameters in Diabetic Patients: A Randomized Clinical Trial.

Introduction: Evaluation of anterior segment parameters is crucial in ophthalmic procedures such as intraocular surgeries and contact lens fitting. However, the use of tropicamide in diabetic patients presents challenges due to its potential impact on biometric measurements. This study aims to investigate and compare the effects of 0.

[Sodium glucose cotransporter-2 inhibitors (SGLT2i) and risk of ketoacidosis].

SGLT2i can induce euglycemic diabetic ketoacidosis (eDKA) in conditions with relative insulin deficiency, such as infections, surgery, or fasting state. In comparison with classical DKA, eDKA typically presents with lower blood glucose levels and more diffuse symptoms like tiredness, tachypnea, nausea and abdominal pain. The diagnosis is commonly delayed, and signs are often attributed to other factors.

[2.6 million cataract surgeries: 31 years with the Swedish National Cataract Register 1992-2022].

This review summarizes data collected by the Swedish National Cataract Register (NCR), which by the end of 2022 contained data on more than 2.6 million cataract surgeries between 1992-2022. During these 31 years, the cataract surgery rate (CSR) rose from 3 700 to 14 407.

[New Swedish National care process for pediatric obstructive sleep disordered breathing].

Obstructive sleep disordered breathing (OSDB) is a spectrum from habitual snoring and labored breathing to obstructive sleep apnea (OSA), which is common and potentially serious in children. The process contains a new question at child care centers, directed at caretakers with children at age 18 months and 3 years, concerning habitual snoring (3 times a week or more). A primary care doctor verifies the suspicion of OSDB in case of a positive answer to one of 7 additional questions or 4 status findings (e.

[Rehabilitation of stroke in a »chain of care« perspective].

Rehabilitation is a key aspect of the treatment of stroke patients, both acute and in later phases. The patients' needs varies between individuals and over time. Several skills and methods and different professionals working together in teams, as well as coordination along the entire chain of care, are required in order to meet those different needs.

Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity.

Telomere biology disorders (TBDs) are characterized by short telomeres, premature aging, bone marrow failure and cancer predisposition. Germline mutations in NHP2, encoding for one component of the telomerase cofactor H/ACA RNA binding complex together with Dyskerin, NOP10 and GAR1, have been previously reported in rare cases of TBDs. Here, we report two novel NHP2 variants (NHP2-A39T and NHP2-T44M) identified in a compound heterozygous patient affected by premature aging, bone marrow failure/myelodysplastic syndrome and gastric cancer.

[Regional variation in usage of TTF (Optune)].

The standard treatment of glioblastoma, an aggressive brain tumour, includes radiotherapy combined with temozolomide. Based on a randomised trial, showing five months increased survival, TTF has been introduced in the management of patients with good performance status. Data from the Swedish national quality registry for CNS tumours have been analysed for TTF usage.

[Considerations when handling common acute intracranial vascular anomalies].

Conditions involving intracranial vascular anomalies are increasingly diagnosed, not least incidentally, with the increasing availability of neuroradiological investigations. Acute deterioration and development of symptoms due to a vascular condition could require neurosurgical intervention depending on the nature of the condition and status of the patient. On the other hand, asymptomatic patients with incidental findings require careful consideration and risk assessment when deciding on whether or not to treat the condition, and if so, how.

[Neurosurgery still pivotal in the diagnostics and treatment of brain tumor patients].

Treatment of adult patients with brain tumors is a multi-disciplinary effort involving several medical disciplines: neurosurgery, oncology, neurology, neuropathology, neuroradiology, and rehabilitation medicine. While the brain tumor field has gone through vast diagnostical changes during the last decade, the hopes of similar achievements in the systemic treatment of these patients with new methods have so far not been fulfilled. As such, neurosurgery still has a pivotal role in the diagnostics and treatment of brain tumor patients.

[Spinal neurosurgery: radiculopathy and myelopathy].

The field of spinal neurosurgery covers degenerative conditions and trauma as well as tumors, malformations and vascular disorders of spine and spinal cord. This article focuses on the Swedish spinal neurosurgical care regarding radiculopathy and myelopathy. Disc herniation, foraminal stenosis, spinal stenosis and spinal cord compression due to degenerative disorders or tumors are discussed.

[Atlantoaxial rotatory subluxation - a cause of torticollis in children].

Atlantoaxial rotatory subluxation is an important differential diagnosis in young children with torticollis. The condition rarely results in neurological deficits. Radiological examinations such as computer tomography (CT) and magnetic resonance imaging (MRI) are useful to determine the diagnosis.

[Critical appraisal trumps timing of antihypertensive medications].

Treatment In Morning versus Evening (TIME) was a pragmatic randomized controlled trial, including more than 21 000 people with medically treated hypertension. Participants were randomized to morning or evening intake of their antihypertensive medications and followed for an average of 5.2 years.

Evidence for etiologic field changes in tongue distant from tumor in patients with squamous cell carcinoma of the oral tongue.

Oral cancer is a paradigm of Slaughter's concept of field cancerization, where tumors are thought to originate within an area of cells containing genetic alterations that predispose to cancer development. The field size is unclear but may represent a large area of tissue, and the origin of mutations is also unclear. Here, we analyzed whole exome and transcriptome features in contralateral tumor-distal tongue (i.

[Routine screening with APTT is not indicated before surgery].

Activated partial thromboplastin time (APTT) is widely practiced in preoperative screening. The value of using this test to predict the risk of perioperative bleeding is not well documented in Sweden. In this article, a literature review is performed to determine whether unselected APTT testing can predict abnormal perioperative bleeding.

[Hereditary transthyretin amyloidosis - from symptomatic to curative treatment?].

Hereditary transthyretin (ATTRv) amyloidosis is a rare but life-threatening multi-systemic disease with clustering areas in, for example, northern Sweden. Until the 1990s, only symptomatic treatments were available but liver transplantation has, in selected patients, been a good therapeutic option since. The first disease-modifying drug for ATTRv amyloidosis was approved in 2011 and since then, the development of new therapeutic drugs has been rapid and successful.

Investigating associations of delay discounting with brain structure, working memory, and episodic memory.

Introduction: Delay discounting (DD), the preference for smaller and sooner rewards over larger and later ones, is an important behavioural phenomenon for daily functioning of increasing interest within psychopathology. The neurobiological mechanisms behind DD are not well understood and the literature on structural correlates of DD shows inconsistencies.

Methods: Here we leveraged a large openly available dataset (n = 1196) to investigate associations with memory performance and gray and white matter correlates of DD using linked independent component analysis.