Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders.

While short-read sequencing currently dominates genetic research and diagnostics, it frequently falls short of capturing certain structural variants (SVs), which are often implicated in the etiology of neurodevelopmental disorders (NDDs). Optical genome mapping (OGM) is an innovative technique capable of capturing SVs that are undetectable or challenging-to-detect via short-read methods. This study aimed to investigate NDDs using OGM, specifically focusing on cases that remained unsolved after standard exome sequencing.

Oral oxycodone for pain after caesarean section: A randomized comparison with nurse-administered IV morphine in a pragmatic study.

Background and aims The present randomized open label parallel group study was conducted to evaluate if an oral oxycodone (OXY) regimen can be at least equally effective and as safe for postoperative analgesia after caesarean section (CS) as a standard of care program using nurse-administered intravenous morphine (IVM), followed by oral codeine. Methods Eighty women (40 + 40) were scheduled for elective CS under spinal anaesthesia. All patients received postoperative multimodal analgesic therapy, including ibuprofen and paracetamol.

Everyday places, heterosexist spaces and risk in contemporary Sweden.

Subjective feelings of risk are a central feature of everyday life, and evidence shows that people who do not conform to contemporary normative notions are often more exposed to everyday risks than others. Despite this, normative notions are rarely acknowledged as risk objects. By drawing on the theory of 'doing' and 'undoing' risk, which combines intersectional and risk theory, this study contributes new perspectives on the everyday risks in contemporary society that face people who many would label as being 'at risk' - lesbian, gay, bisexual and transgender people.

How women perceive abortion care: A study focusing on healthy women and those with mental and posttraumatic stress.

Objectives To identify perceived deficiencies in the quality of abortion care among healthy women and those with mental stress. Methods This multi-centre cohort study included six obstetrics and gynaecology departments in Sweden. Posttraumatic stress (PTSD/PTSS) was assessed using the Screen Questionnaire-Posttraumatic Stress Disorder; anxiety and depressive symptoms, using the Hospital Anxiety Depression Scale; and abortion quality perceptions, using a modified version of the Quality from the Patient's Perspective questionnaire.

Pregnant women's perspectives on decision-making when a fetal malformation is detected by ultrasound examination.

Objectives: The aims of the study were to explore factors influencing the decision to continue or terminate pregnancy due to detection of fetal malformation following ultrasound examination, to elucidate the need for more information or other routines to facilitate the decision-making process and to assess satisfaction with the decision made.

Design: Descriptive study.

Setting: Four fetal care referral centres in Stockholm, Sweden.

Does an information film about prenatal testing in early pregnancy affect women's anxiety and worries?

Objective: To explore if an information film about prenatal examinations affects pregnant women's worry and anxiety.

Methods: Randomized controlled study. The intervention was an information film about prenatal examinations.

Does an informational film increase women's possibility to make an informed choice about second trimester ultrasound?

Objective: To evaluate effects of an informational film on making an informed choice regarding second trimester ultrasound.

Method: Randomized controlled study. The intervention was an informational film about prenatal examinations.

Intraoperative injection of bupivacaine-adrenaline close to the fascia reduces morphine requirements after cesarean section: a randomized controlled trial.

Objective: The purpose of this study was to investigate whether a single injection of bupivacaine with adrenaline close to the fascia could decrease opiate consumption and pain in patients undergoing cesarean section in spinal anesthesia.

Design: Randomized double-blind controlled study.

Settings: Karolinska University Hospital, Huddinge, Sweden.

Audiovisual information affects informed choice and experience of information in antenatal Down syndrome screening--a randomized controlled trial.

Objective: To evaluate the effects of an information film on making an informed choice regarding Down syndrome screening, and women's knowledge and experiences of information.

Methods: Randomized controlled trial including 184 women in the intervention group and 206 controls recruited from maternity units in Stockholm, Sweden. The intervention was an information film presented as a complement to written and verbal information.

The role of similarity cues in the development of trust in sources of information about GM food.

In evaluating complex new technologies, people are usually dependent on information provided by others, for example, experts or journalists, and have to determine whether they can trust these information sources. This article focuses on similarity as the basis for trust. The first experiment (N = 261) confirmed that a journalist writing about genetically modified (GM) food was trusted more when his attitude was congruent with that of his readers.

Recommended standard of cerebrospinal fluid analysis in the diagnosis of multiple sclerosis: a consensus statement.

New criteria for the diagnosis of multiple sclerosis (MS) were published as the result of an internationally formed committee. To increase the specificity of diagnosis and to minimize the number of false diagnoses, the committee recommended the use of both clinical and paraclinical criteria, the latter involving information obtained from magnetic resonance imaging, evoked potentials, and cerebrospinal fluid (CSF) analysis. Although rigorous magnetic resonance imaging requirements were provided, the "new criteria paper" fell short in terms of guidelines as to how the CSF analysis should be performed and simply equated the IgG index with isoelectric focusing, without any justification.

Prognostic value of cerebrospinal fluid IgA and IgG in multiple sclerosis.

IgA antibodies do not activate complement and may compete with and protect against myelin degradation caused by IgM and IgG in multiple sclerosis (MS). We retrospectively evaluated cerebrospinal fluid (CSF) IgA and IgG (as indices and extended indices) from 1980 to 1988 in 68 patients with definitive MS. Sixty-one of them had survived since the time of sampling (11-19 years).

Women's worries during pregnancy: testing the Cambridge Worry Scale on 200 Swedish women.

The Cambridge Worry Scale (CWS) is an instrument including 16 items measuring women's major worries during pregnancy. The aim of the study was to test the scale, translated into Swedish, on pregnant women in Stockholm. We also wanted to explore whether these women were worried about any item not included in the scale.

Effectiveness of occlusive bedding in the treatment of atopic dermatitis--a placebo-controlled trial of 12 months' duration.

Background: Several studies on avoidance of house-dust-mite (HDM) and cat allergens have been carried out, most of them in asthmatic patients and only a few in patients with atopic dermatitis (AD). No study so far has focused on which subgroup of AD patients benefits from avoidance measures.

Methods: Forty adult patients with AD completed the 12-month avoidance study.

A follow-up study of leg ulcer patients in south Stockholm.

The objective of this study was to follow up patients with leg ulcers, previously identified in an epidemiological study in South Stockholm. Rate of healing, non-healing, recurrence, amputation and mortality were recorded. A total of 254 patients were identified for follow-up after 18 months, 217 of whom were included.

Sensitization to allergens of house-dust mite in adults with atopic dermatitis in a cold temperature region.

Background: An IgE-mediated contact reaction to airborne allergens has been suggested as one important pathogenetic mechanism in atopic dermatitis (AD). The house-dust mite (HDM) might be a common allergen involved. In Scandinavia, sensitization to HDM has been rare, probably because of the cold, dry climate.

Anticoagulant treatment of patients with atrial fibrillation in primary health care.

Objective: To determine the prevalence of anticoagulant (AC) treatment of patients with atrial fibrillation in primary health care. To identify complications in the same patients during 1 year.

Design: Cross-sectional study and 1-year follow-up.

Potential side effects of dental amalgam restorations. (I). An oral and medical investigation.

The aim of this study was to explore a possible association between health status and self-reported adverse effects related to dental amalgam restorations. A group of 50 consecutive patients (index group), referred for complaints self-related to dental amalgam restorations, was compared with a control group of individuals matched by age, sex and postal zip code. The patients underwent an oral, stomatognathic, medical and clinical chemistry examination.

Quality control for the clinical chemistry laboratory.

Since the beginning of the twentieth century, different methods to control the quality of analyses have been in use. The advent of modern analytical instruments has prompted the need for such controls. In a modern clinical chemistry laboratory, quality control is an important tool to maintain the high predictive value of the methods in use.

Leg and foot ulcer patients. Epidemiology and nursing care in an urban population in south Stockholm, Sweden.

Objective: To study the prevalence, demography, perceived aetiology, level of care, treatment and nursing care of patients treated for leg and foot ulcers.

Design: Prospective survey of leg and foot ulcer patients, using a structured questionnaire consisting of 20 questions directed at nurses and doctors in 193 units, including both primary health care and hospital.

Setting: South Stockholm Medical Area, Stockholm, Sweden.

Anticoagulant treatment in primary health care in Finland.

Objective: To establish the prevalence of anticoagulant (AC) treatment, the indications, and the quality of care in primary health care.

Design: A cross-sectional study, in which patients on AC treatment were identified from laboratory records. The main and second indications for AC treatment and the last value of the AC-test were taken from medical records.

Lithofibrin. A new remarkably stable substance found in renal stones.

Besides inorganic constituents, renal stones contain organic matter known as stone matrix. We have examined such matrix obtained from stones that had been crushed by extracorporeal shock-wave lithotripsy, in order to determine its chemical properties. Morphologically, the matrix was composed of fibers of different colors, most of them exhibiting autofluorescence.