'Nobody Has Ever Spoken to Me About PCD and Fertility Issues': Fertility Experiences of People With Primary Ciliary Dyskinesia and Their Family Caregivers.

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 experiences with fertility.

Methods: We used qualitative data from a questionnaire on fertility from Living with PCD, an international participatory study.

Sociodemographic and regional differences in neonatal and infant mortality in Switzerland in 2011-2018: the Swiss National Cohort.

Background And Aims: 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 by evidence-based policies is a public health priority. We describe neonatal and infant mortality in Switzerland from 2011 to 2018 and explore associations with neonatal- and pregnancy-related variables, parental sociodemographic information, regional factors and socioeconomic position (SEP) using data from a long-term nationwide cohort study.

Questionnaire-assessed genotypes and associations with symptoms in primary ciliary dyskinesia.

https://bit.ly/4bvKW4R.

Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia.

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 that women with PCD had an increased risk of ectopic pregnancies (7.6 per 100 pregnancies, 95% CI 4.7-12.

ERS International Congress 2023: highlights from the Paediatrics Assembly.

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 prevention of respiratory diseases and management of children with respiratory diseases will benefit patients during the full life course. Scientific and clinical advances in the field of respiratory health are moving at a fast pace.

Fertility care among people with primary ciliary dyskinesia.

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 of the COVID-PCD study completed an online questionnaire addressing fertility issues.

Diagnostic testing in people with primary ciliary dyskinesia: An international participatory study.

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 recall their tests, and identified factors associated with the use of tests. We used cross-sectional data from COVID-PCD-an international participatory cohort study collecting information directly from people with PCD.

Incidence and Severity of SARS-CoV-2 Infections in People With Primary Ciliary Dyskinesia.

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. We used self-reported questionnaire data from the COVID-PCD study at baseline or during weekly follow-ups.

Physical activity, respiratory physiotherapy practices, and nutrition among people with primary ciliary dyskinesia in Switzerland - a cross-sectional survey.

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 chronic respiratory disease. We assessed physical activity, respiratory physiotherapy practices and nutritional status among people with primary ciliary dyskinesia in Switzerland, investigated how these vary by age and identified factors associated with regular physical activity.

Methods: We sent a postal questionnaire survey to people with primary ciliary dyskinesia enrolled in the Swiss PCD registry (CH-PCD), based on the standardised FOLLOW-PCD patient questionnaire.

Phenotypic profiling with a living biobank of primary rhabdomyosarcoma unravels disease heterogeneity and AKT sensitivity.

Cancer therapy is currently shifting from broadly used cytotoxic drugs to patient-specific precision therapies. Druggable driver oncogenes, identified by molecular analyses, are present in only a subset of patients. Functional profiling of primary tumor cells could circumvent these limitations, but suitable platforms are unavailable for most cancer entities.