Quality of care at childbirth during the COVID-19 pandemic in Belgium: a cross-sectional study based on WHO standards.

Objectives: To examine quality of maternal and newborn care (QMNC) around childbirth in facilities in Belgium during the COVID-19 pandemic and trends over time.

Design: A cross-sectional observational study.

Setting: Data of the Improving MAternal Newborn carE in the EURO region study in Belgium.

Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates.

Joubert syndrome (JS) is an inherited neurodevelopmental ciliopathy with wide clinical and genetic heterogeneity, whose paradigmatic sign is a peculiar cerebellar and brainstem malformation known as the 'molar tooth sign'. Recessive pathogenic variants in the gene are associated with hydrolethalus syndrome (HLS), a severe disorder characterised by multiple developmental defects leading to intrauterine or perinatal death. However, biallelic variants were also reported in three individuals with JS.

Epidural Catheter Bacterial Colonization and Infection in a Secondary Portuguese Hospital Setting.

Background and study goal Epidural analgesia is effective for postoperative pain control but carries risks of infection, including bacterial colonization. This study aimed to determine the incidence of epidural catheter colonization and infection in a Portuguese hospital, identify common microorganisms and antibiotic resistance profiles, and assess potential risk factors. Materials and methods We conducted a prospective observational study from November 2022 to March 2023 in a Portuguese secondary care center.

Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA--Related Ataxia.

Objectives: To report a novel imaging finding of bilateral dentate nuclei hyperintensities in a case of childhood-onset GAA--related ataxia (spinocerebellar ataxia 27B, SCA27B) and response to 4-aminopyridine (4-AP).

Methods: A 53-year-old woman with unsolved progressive cerebellar ataxia of childhood onset underwent clinical and imaging assessment and extensive genetic investigation.

Results: After excluding Friedreich ataxia, most common spinocerebellar ataxia-related expansions, and pathogenic variants in ataxia-related genes through exome sequencing, targeted long-range PCR and repeat-primed PCR analysis revealed a heterozygous pathogenic (GAA) expansion in Brain MRI showed bilateral dentate nuclei hyperintensities and peridentate white matter degeneration, a feature never reported before in SCA27B.

Genetic and Epidemiological Insights into RAB32-Linked Parkinson's Disease.

Background: The p.Ser71Arg RAB32 variant was recently associated with Parkinson's disease (PD).

Objective: The aim was to investigate the presence of RAB32 variants in a large multiethnic group of individuals affected and unaffected by PD.