When care hurts: parents' experiences of caring for a child with epidermolysis bullosa.

Background: Epidermolysis bullosa (EB) comprises a group of genetically and clinically heterogeneous diseases characterized by skin fragility and blistering. EB is incurable, and treatment consists of preventing blisters in addition to painful and time consuming skin care, often performed by the parents, in addition to monitoring other symptoms in cases of severe EB.

Results: The purpose of this study was to explore parental experiences of caring for a child with EB.

Self-reported symptoms of everyday executive dysfunction, daytime sleepiness, and fatigue and health status among adults with congenital aniridia: a descriptive study.

Background: Congenital aniridia is a rare genetic disorder of the eye characterized by visual impairment and progressive vision loss. While prior research has focused on ocular manifestations in individuals with aniridia, there is a dearth of research on impacts on cognition and mental health. The aims of this study were to describe subjective symptoms of everyday executive functioning, fatigue and sleepiness in adults with aniridia and to compare self-reported health status with that of a normative reference group.

Dry eye in the upper blepharoplasty patient: a study comparing orbicularis-sparing versus orbicularis-excising techniques.

Purpose: To compare subjective and objective dry eye syndrome (DES) metrics preoperatively and postoperatively in patients undergoing bilateral upper eyelid blepharoplasty (ULB) using orbicularis-sparing versus orbicularis-excising techniques.

Methods: A double-blind, randomized clinical trial was conducted on patients without prior DES or other severe conditions who presented to our institution between 2017 and 2019 for routine functional ULB. Patients were randomized into two treatment arms: bilateral ULB using the orbicularis-sparing technique or bilateral ULB using the orbicularis-excising technique.

The impact of vasomotion on analysis of rodent fMRI data.

Introduction: Small animal fMRI is an essential part of translational research in the cognitive neurosciences. Due to small dimensions and animal physiology preclinical fMRI is prone to artifacts that may lead to misinterpretation of the data. To reach unbiased translational conclusions, it is, therefore, crucial to identify potential sources of experimental noise and to develop correction methods for contributions that cannot be avoided such as physiological noise.

Children with a rare congenital genetic disorder: a systematic review of parent experiences.

Background: Caring for a child with a chronic disease may be demanding and stressful. When a child has a rare condition, the impact of care on parents is amplified due to the rarity of the diagnosis. In order to address the lack of generalized and synthesized knowledge regarding parents' experiences of having a child with a rare genetic disorder, and give a holistic picture of these experiences, a systematic review of the available qualitative research was conducted.

It's more than just lubrication of the skin: parents' experiences of caring for a child with ichthyosis.

: The ichthyoses are a group of genetic skin disorders, characterized by excessive amounts of dry, thickened skin, which may be fragile, inelastic and prone to fissures and infection. Skin care is time consuming and demanding, and, usually performed by the parents. : We aimed to explore parental experience of caring for a child with ichthyosis, and collected data using semistructured interview, and thematic analysis.

Experimental realization of a 3D random hopping model.

Scientific advance is often driven by identifying conceptually simple models underlying complex phenomena. This process commonly ignores imperfections which, however, might give rise to non-trivial collective behavior. For example, already a small amount of disorder can dramatically change the transport properties of a system compared to the underlying simple model.

Health-related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress.

Health-related quality of life (HRQOL) is reduced in Fabry disease (FD) and associated with clinical disease manifestations, but few have used Fabry-specific severity scores to study how disease burden interferes with quality of life. We investigated how the Fabry DS3, consisting of four somatic domains and one patient-reported item, associates with HRQOL, while also evaluating fatigue, pain and psychological distress as possible predictors. Thirty-six adults with FD completed the Short-form Health Survey (SF-36), the hospital anxiety and depression scale (HADS), the brief pain inventory (BPI) and reported fatigue on a visual analog scale.

The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease.

Background: Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by multiorgan dysfunction. Since individuals with FD usually experience progressive clinical disease manifestations, their health-related quality of life (HRQOL) is expected to change over time. However, there is limited longitudinal research examining HRQOL outcomes in individuals with FD.

Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.

By clinical whole exome sequencing, we identified 12 individuals with ages 3 to 37 years, including three individuals from the same family, with a consistent phenotype of intellectual disability (ID), macrocephaly, and overgrowth of adenoid tissue. All 12 individuals harbored a rare heterozygous variant in ZBTB7A which encodes the transcription factor Zinc finger and BTB-domain containing protein 7A, known to play a role in lympho- and hematopoiesis. ID was generally mild.

Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.

An accurate diagnosis of syndromic craniosynostosis (CS) is important for personalized treatment, surveillance, and genetic counselling. We describe detailed clinical criteria for syndromic CS and the distribution of genetic diagnoses within the cohort. The prospective registry of the Norwegian National Unit for Craniofacial Surgery was used to retrieve individuals with syndromic CS born between 1 January 2002 and 30 June 2019.

Primary Immunodeficiency Diseases and Gastrointestinal Distress: Coping Strategies and Dietary Experiences to Relieve Symptoms.

In this article, we focus on adults with primary immunodeficiency disease (PID) and their experiences with gastrointestinal (GI) distress with the aim of exploring how they experience living with their condition and the actions they take to relieve GI distress. Twelve adults with PID and GI distress participated in semi-structured, in-depth interviews. The interviews were analyzed following the steps of thematic analysis (TA).

Life expectancy and cause of death in individuals with haemophilia A and B in Norway, 1986-2018.

Objectives: Evaluate trends over time in age- and cause of death in males with haemophilia (PWH) in Norway compared with the general male population and investigate its correlates with improvements in haemophilia treatment.

Methods: Data about age and cause of death in the period of 1986-2018, from two independent, high-quality national registries: the Norwegian Cause of Death Registry (NCoDR) and the patient registry at Centre for Rare Disorders (CRD), Oslo University Hospital.

Results: Life expectancy increased significantly from 1986 to 2018.

Psychological reactions to predictive genetic testing for Huntington's disease: A qualitative study.

There is a lack of qualitative research investigating the experience of individuals at risk for Huntington's disease (HD) during the period prior to undergoing predictive testing, as well as their reaction to the test result. This secondary analysis study aimed to explore the experiences during the predictive testing process of individuals who had been or who were at risk for HD. For the primary study, in-depth semi-structured interviews were conducted, and data were analyzed using inductive thematic analysis.

Caring for a child with Bardet-Biedl syndrome: A qualitative study of the parental experiences of daily coping and support.

This study aimed to explore the parental experiences of having a child with Bardet-Biedl syndrome (BBS) and how parents managed to cope with this situation. Five parents of children with BBS (0-18 years old) participated in semistructured in-depth interviews. Inductive thematic analysis was used to identify themes.

Experimental realization of a Rydberg optical Feshbach resonance in a quantum many-body system.

Feshbach resonances are a powerful tool to tune the interaction in an ultracold atomic gas. The commonly used magnetic Feshbach resonances are specific for each species and are restricted with respect to their temporal and spatial modulation. Optical Feshbach resonances are an alternative which can overcome this limitation.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

Whole-gene duplications and missense variants in the HUWE1 gene (NM_031407.6) have been reported in association with intellectual disability (ID). Increased gene dosage has been observed in males with non-syndromic mild to moderate ID with speech delay.

Living with a rare disorder: a systematic review of the qualitative literature.

Background: Individuals with rare diseases may face challenges that are different from those experienced in more common medical conditions. A wide range of different rare conditions has resulted in a myriad of studies investigating the specificities of the diagnosis in focus. The shared psychological experiences of individuals with a rare condition, however, have not been reviewed systematically.

"It was a lot Tougher than I Thought It would be". A Qualitative Study on the Changing Nature of Being a Hemophilia Carrier.

Studies on carriers of genetic disorders mainly focus on the process of genetic testing and reproductive choices, and less on how psychosocial aspects of being a carrier change over time. Our study sought to understand more about the psychosocial aspects of hemophilia carrier status, and thereby improve counseling aiming to advance carriers' quality of life and well-being. We analyzed 16 in-depth interviews from women who were carriers of hemophilia and had a son with hemophilia.

Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.

Keratolytic winter erythema (KWE) is a rare autosomal-dominant skin disorder characterized by recurrent episodes of palmoplantar erythema and epidermal peeling. KWE was previously mapped to 8p23.1-p22 (KWE critical region) in South African families.