Leonie D Schreck
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View article: How well does spirometry capture the symptom range in primary ciliary dyskinesia? – a cross-sectional national study
How well does spirometry capture the symptom range in primary ciliary dyskinesia? – a cross-sectional national study Open
Introduction Patients with primary ciliary dyskinesia (PCD) present a variety of respiratory symptoms. Spirometry, particularly forced expiratory volume in 1 s (FEV1), is the most commonly used outcome measure in clinical follow-up, howeve…
View article: ‘Nobody Has Ever Spoken to Me About PCD and Fertility Issues’: Fertility Experiences of People With Primary Ciliary Dyskinesia and Their Family Caregivers
‘Nobody Has Ever Spoken to Me About PCD and Fertility Issues’: Fertility Experiences of People With Primary Ciliary Dyskinesia and Their Family Caregivers Open
Background Primary ciliary dyskinesia (PCD) affects fertility in both females and males. To understand the impact and concerns among people with PCD and parents of affected children (family caregivers), we explored how they report their ex…
View article: Patients' research priorities and participation in primary ciliary dyskinesia research
Patients' research priorities and participation in primary ciliary dyskinesia research Open
Introduction: People living with chronic diseases can provide a unique perspective for research that often differs from that of healthcare professionals. This is particularly important in rare diseases like primary ciliary dyskinesia (PCD)…
View article: Hearing screening beyond the clinic: Childhood cancer survivors’ perspectives on a novel hearing screening program
Hearing screening beyond the clinic: Childhood cancer survivors’ perspectives on a novel hearing screening program Open
Purpose Childhood cancer survivors (CCS) are at risk for late effects including hearing loss due to ototoxic treatments. It is crucial to detect late effects like hearing loss early, but many adult CCS do not attend recommended follow-up c…
View article: “Nobody has ever spoken to me about PCD and fertility issues”: Fertility experiences of people with primary ciliary dyskinesia and their family caregivers
“Nobody has ever spoken to me about PCD and fertility issues”: Fertility experiences of people with primary ciliary dyskinesia and their family caregivers Open
Background Primary ciliary dyskinesia (PCD) affects fertility in both women and men. To understand the impact and concerns among people with PCD and parents of affected children (family caregivers), we explored how they report their experi…
View article: Incidence and predictors of pulmonary exacerbations in primary ciliary dyskinesia: an international prospective cohort study
Incidence and predictors of pulmonary exacerbations in primary ciliary dyskinesia: an international prospective cohort study Open
Introduction Pulmonary exacerbations contribute to disease progression in chronic lung diseases. In a large prospective cohort study, we studied the incidence and predictors of pulmonary exacerbations among persons with primary ciliary dys…
View article: Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia
Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia Open
Study question What is the prevalence of infertility and ectopic pregnancies among individuals with primary ciliary dyskinesia (PCD), to what extent do they benefit from medically assisted reproduction (MAR), and how does fertility differ …
View article: Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia
Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia Open
STUDY QUESTION What is the prevalence of infertility and ectopic pregnancies among individuals with primary ciliary dyskinesia (PCD)? SUMMARY ANSWER We found that 39 of 50 men (78%) and 72 of 118 women (61%) with PCD were infertile and tha…
View article: ERS International Congress 2023: highlights from the Paediatrics Assembly
ERS International Congress 2023: highlights from the Paediatrics Assembly Open
Respiratory health in children is essential for general wellbeing and healthy development in the short and long term. It is well known that many respiratory diseases in adulthood have their origins in early life, and therefore research on …
View article: Genotypes and associations with symptoms in primary ciliary dyskinesia
Genotypes and associations with symptoms in primary ciliary dyskinesia Open
Background Knowledge about genotype-phenotype associations is crucial for understanding the clinical variability of primary ciliary dyskinesia (PCD). We studied how feasible it is to collect information about causative genes directly from …
View article: Sociodemographic and regional differences in neonatal and infant mortality in Switzerland: The Swiss National Cohort
Sociodemographic and regional differences in neonatal and infant mortality in Switzerland: The Swiss National Cohort Open
Summary Background Despite a well-funded healthcare system with universal insurance coverage, Switzerland has one of the highest neonatal and infant mortality rates among high-income countries. Identifying avoidable risk factors targeted b…
View article: Incidence and Severity of SARS-CoV-2 Infections in People With Primary Ciliary Dyskinesia
Incidence and Severity of SARS-CoV-2 Infections in People With Primary Ciliary Dyskinesia Open
Objectives: There is little data on SARS-CoV-2 in people with rare chronic diseases. We studied incidence and severity of SARS-CoV-2 and its risk factors in people with primary ciliary dyskinesia (PCD) from May 2020 to May 2022. Methods: W…
View article: Fertility care among people with primary ciliary dyskinesia
Fertility care among people with primary ciliary dyskinesia Open
Introduction Fertility care is important for people living with primary ciliary dyskinesia (PCD) who are at increased risk of fertility problems. We investigated fertility care in an international participatory study. Methods Participants …
View article: Diagnostic testing in people with primary ciliary dyskinesia: an international participatory study
Diagnostic testing in people with primary ciliary dyskinesia: an international participatory study Open
Diagnostic tests are important in primary ciliary dyskinesia (PCD), a rare disease, to confirm the diagnosis and characterize the disease. We compared diagnostic tests for PCD between countries worldwide, assessed whether people with PCD r…
View article: Incidence and severity of SARS-CoV-2 infections in people with primary ciliary dyskinesia
Incidence and severity of SARS-CoV-2 infections in people with primary ciliary dyskinesia Open
Importance Early in the COVID-19 pandemic, chronic respiratory disease was considered a risk factor for severe COVID-19 disease. Studies have confirmed a higher risk of intensive care unit admission and mortality in people with chronic pul…
View article: Physical activity, respiratory physiotherapy practices, and nutrition among people with primary ciliary dyskinesia in Switzerland – a cross-sectional survey
Physical activity, respiratory physiotherapy practices, and nutrition among people with primary ciliary dyskinesia in Switzerland – a cross-sectional survey Open
AIMS OF THE STUDY: We know little about the level of physical activity, respiratory physiotherapy practices and nutritional status of people with primary ciliary dyskinesia (PCD), although these are important aspects of patients with chron…
View article: Physical activity, respiratory physiotherapy practices, and nutrition among people with primary ciliary dyskinesia in Switzerland
Physical activity, respiratory physiotherapy practices, and nutrition among people with primary ciliary dyskinesia in Switzerland Open
Summary Aims of the study We know little about the level of physical activity, respiratory physiotherapy practices, and nutritional status of people with primary ciliary dyskinesia (PCD), although these are important aspects of patients wi…