[Clinical and genetic analysis of a patient with Desminopathy manifesting initially with myalgia after lower limb activity].

Objective: To explore the clinical characteristics and genetic variant of a patient with desminopathy manifesting with atypical symptoms.

Methods: A patient who was admitted to the Department of Neurology of Jing'an District Central Hospital on February 24, 2021 was selected as the study subject. Clinical data, laboratory tests, muscle pathology, muscle magnetic resonance imaging (MRI) and genetic testing of the patient were retrospectively analyzed.

Olfactory training in normosmic individuals: a randomised controlled trial.

Background: Even if olfactory training (OT) is a well-established treatment for individuals with olfactory dysfunction, the effect on individuals with normosmia remains uncertain. In this randomised controlled trial, we explore how OT with different exposure lengths affect olfactory function in individuals with normosmia.

Methodology: Two hundred normosmic individuals were randomly assigned to one of two intervention groups performing OT with different exposure lengths or to a control group.

Hearing and Functioning in Everyday Life Questionnaire: Development and Validation of an ICF-Based Instrument.

Objectives: Self-assessment instruments are commonly used in audiological rehabilitation. However, several studies highlight the lack of multidimensionality in existing outcome measures, with the consequence that they only partially capture aspects of functioning in everyday life for people living with hearing loss. This study aimed to develop and investigate the content validity of a self-assessment instrument based on the validated Brief International Classification of Functioning, Disability, and Health Core Set for Hearing Loss.

The SPROUT study: A survey on current management practice of reproductive aspects in women of childbearing age with systemic autoimmune rheumatic diseases.

The SPROUT (Survey on reproduction in RheUmaTology) study explored current practice in women of childbearing age with systemic autoimmune rheumatic diseases, investigating the counselling on contraception, the prescription of low dose acetylsalicylic acid (LDASA) to pregnant patients and the management of disease activity in the post-partum period. The SPROUT questionnaire was designed ad hoc and promoted in the three months before the "11 International Conference on Reproduction, Pregnancy and Rheumatic Disease". Between June and August 2021, 121 physicians responded to the survey.

Role-playing in cognitive behavioral supervision.

Role-play helps the supervisor present a moment of therapy, and reflect on what has happened to the therapist to the patient and further model the therapeutic skills. Usually, the supervisor or other supervisees (in group supervision) play the patient, and the therapist plays a significant moment in the psychotherapeutic session. Supervisors or supervisees in group supervision can play the patient in different situations, and can also reverse roles when the therapist plays their patient, and the supervisor plays the therapist.

Caesarean section in women with axial spondyloarthritis and psoriatic arthritis: a population-based study.

Background: There is sparse documentation on pregnancy outcomes in women with axial spondyloarthritis (axSpA) and psoriatic arthritis (PsA). Data on disease activity are often lacking, preventing the direct investigation of the effect of inflammation on pregnancy outcomes. A caesarean section (CS) implies a higher risk for complications than vaginal delivery.

Immunology of pregnancy and reproductive health in autoimmune rheumatic diseases. Update from the 11 International Conference on Reproduction, Pregnancy and Rheumatic Diseases.

Autoimmune rheumatic diseases (ARD) can affect women and men during fertile age, therefore reproductive health is a priority issue in rheumatology. Many topics need to be considered during preconception counselling: fertility, the impact of disease-related factors on pregnancy outcomes, the influence of pregnancy on disease activity, the compatibility of medications with pregnancy and breastfeeding. Risk stratification and individualized treatment approach elaborated by a multidisciplinary team minimize the risk of adverse pregnancy outcomes (APO).

Erratum to "The Assistive Device Situation for ALS Patients in Norway".

[This corrects the article DOI: 10.1155/2021/5563343.].

Pregnancy and neonatal outcomes in women with axial spondyloarthritis: pooled data analysis from the European Network of Pregnancy Registries in Rheumatology (EuNeP).

Objective: To investigate outcome and course of pregnancies in women with axial spondyloarthritis (axSpA) in a pooled data analysis of pregnancy registries in rheumatology.

Methods: Prospectively followed women with axSpA, fulfilling ASAS classification criteria and for whom a pregnancy outcome was reported, were eligible for the analysis. Anonymised data of four registries was pooled.

Children treated for developmental dysplasia of the hip at birth and with normal acetabular index at 1 year: How many had residual dysplasia at 5 years?

Purpose: The purpose of the study was to assess the effect of further follow-up for children treated for developmental dysplasia of the hip, with normal clinical and radiological findings at 1-year time point. The effect was quantified by the number of hips with a pathologic deterioration up to 5 years.

Methods: Among 47,289 children born in Sør-Trøndelag county in Norway between 2003 and 2015, 265 children had developmental dysplasia of the hip.

Measured and self-reported olfactory function in voluntary Norwegian adults.

Purpose: The lack of epidemiological data on the proportion of olfactory dysfunction (OD) using comprehensive olfactory assessment in healthy adults in Scandinavia motivated to the present study which aimed to explore the proportion of OD in voluntary healthy Norwegian adults, assessed by Sniffin' Sticks, and its correlation to self-reported olfactory function. Furthermore, sociodemographic and clinical factors associated with olfactory function were analysed.

Methods: The sample included 405 Norwegian participants, aged 18-78 years, 273 women and 132 men, who underwent olfactory testing with extensive Sniffin' Sticks test, allergy testing, clinical examination with nasal endoscopy and completed a self-administered questionnaire, including self-evaluation of olfactory function on a 100 mm Visual Analogue Scale.

The Assistive Device Situation for ALS Patients in Norway.

Aims: There are limited analytical descriptions of the assistive device situation in Norway for patients with ALS and other motor neuron diseases. This study is aimed at investigating how patients, caregivers, and healthcare professionals (occupational therapists and physiotherapists) experience the assistive device situation.

Methods: Twenty-four interviews were conducted with patients with motor neuron disease, caregivers, and healthcare professionals involved in procurement and adaptation of assistive devices.

EULAR recommendations for a core data set for pregnancy registries in rheumatology.

Background And Objective: There is an urgent need for robust data on the trajectories and outcomes of pregnancies in women with inflammatory rheumatic diseases (IRD). In particular when rare outcomes or rare diseases are to be investigated, collaborative approaches are required. However, joint data analyses are often limited by the heterogeneity of the different data sources.

Bridging the Gap Between Fluid Biomarkers for Alzheimer's Disease, Model Systems, and Patients.

Alzheimer's disease (AD) is a debilitating neurodegenerative disease characterized by the accumulation of two proteins in fibrillar form: amyloid-β (Aβ) and tau. Despite decades of intensive research, we cannot yet pinpoint the exact cause of the disease or unequivocally determine the exact mechanism(s) underlying its progression. This confounds early diagnosis and treatment of the disease.

Compensation claims after knee cartilage surgery is rare. A registry-based study from Scandinavia from 2010 to 2015.

Background: Focal cartilage defects (FCDs) in the knee joint has a high prevalence. A broad range of treatment options exists for symptomatic patients. Knowledge of patient compensation claims following surgical treatment of FCDs is missing.

Imagery in cognitive behavioral supervision.

Objective: This article describes the role of imagery in supervision which is a part of the work of both the supervisee and the supervisor. Imagination bears outstanding importance in psychotherapy and supervision.

Method: The relevant texts for this narrative review were identified through the Web of Science and PubMed databases, within the period 1990-2019.

Evaluating plasma extracellular vesicle microRNAs as possible biomarkers for osteoarthritis.

Objective: MicroRNAs (miRNAs) are being launched as biomarkers for various diseases, but a robust biomarker for articular cartilage pathology has yet to be discovered. Here we evaluate plasma extracellular vesicle (EV) miRNAs as possible biomarkers for osteoarthritis (OA).

Method: We compared miRNA levels found in plasma EVs from patients with OA with controls without OA using next generation sequencing (NGS) technique.

Tracking Impact of Interstitial Lung Disease in Systemic Sclerosis in a Complete Nationwide Cohort.

Interstitial lung disease (ILD) represents a major challenge in systemic sclerosis (SSc), but there are no precise, population-based data on its overall impact, limiting opportunities for screening and management strategies. Evaluate impact of ILD in a unique, nationwide, population-based SSc cohort. ILD was assessed prospectively in the Norwegian SSc (Nor-SSc) cohort, including all 815 patients with SSc resident in the country from 2000 to 2012.

Microfracture is more cost-effective than autologous chondrocyte implantation: a review of level 1 and level 2 studies with 5 year follow-up.

Purpose: Focal cartilage defects in the knee may have devastating effect on the knee joint, where two of the main surgical treatment options are microfracture and autologous chondrocyte implantation. Comparative studies have failed to establish which method yields the best clinical results. A cost-effectiveness analysis of microfracture and autologous chondrocyte implantation would contribute to the clinical decision process.

Load transfer in the proximal femur and primary stability of a cemented and uncemented femoral stem: An experimental study on cadaver femurs.

There are principally two fixation methods in total hip arthroplasty, cemented and uncemented. Both methods have in general good long-time survival. Studies comparing cemented and uncemented femoral stems indicate that the cemented stems perform somewhat better, at least in the elderly population.

Physical examination tests of the shoulder: a systematic review and meta-analysis of diagnostic test performance.

Background: Physical examination tests of the shoulder (PETS) are clinical examination maneuvers designed to aid the assessment of shoulder complaints. Despite more than 180 PETS described in the literature, evidence of their validity and usefulness in diagnosing the shoulder is questioned.

Methods: This meta-analysis aims to use diagnostic odds ratio (DOR) to evaluate how much PETS shift overall probability and to rank the test performance of single PETS in order to aid the clinician's choice of which tests to use.

Clinical features, comorbidity, and cognitive impairment in elderly bipolar patients.

Introduction: Data specific to late-life bipolar disorder (BD) are limited. Current research is sparse and present guidelines are not adapted to this group of patients.

Objectives: We present a literature review on clinical characteristics, comorbidities, and cognitive impairment in patients with late-life BD.