The belief of doing correct PFM contraction was false in at least one of five postpartum women. Verbal instructions have a positive effect on performing PFMC in 73.6% of women.

BackgroundCleidocranial dysplasia (CCD) is a rare skeletal dysplasia with significant clinical variability. Patients with CCD typically present with delayed closure of fontanels and cranial sutures, dental anomalies, clavicular hypoplasia or aplasia and short stature. Runt-related transcription factor 2 (RUNX2)is currently the only known disease-causing gene for CCD, but several studies have suggested locus heterogeneity.MethodsThe cohort consists of eight subjects from five unrelated families partially identified through GeneMatcher. Exome or genome sequencing was applied and in two subjects the effect of the variant was investigated at RNA level.ResultsIn each subject a heterozygous pathogenic variant inCBFBwas detected, whereas no genomic alteration involvingRUNX2was found. ThreeCBFBvariants (one splice site alteration, one nonsense variant, one 2 bp duplication) were shown to result in a premature stop codon. A large intragenic deletion was found to delete exon 4, without affectingCBFBexpression. The effect of a second splice site variant could not be determined but most likely results in a shortened or absent protein. Affected individuals showed similarities withRUNX2-related CCD, including dental and clavicular abnormalities. Normal stature and neurocognitive problems were however distinguishing features.CBFBencodes the core-binding factor β subunit, which can interact with all RUNX proteins (RUNX1, RUNX2, RUNX3) to form heterodimeric transcription factors. This may explain the phenotypic differences betweenCBFB-related andRUNX2-related CCD.ConclusionWe confirm the previously suggested locus heterogeneity for CCD by identifying five pathogenic variants inCBFBin a cohort of eight individuals with clinical and radiographic features reminiscent of CCD.

Background/Aim Children on chronic noninvasive ventilation are at risk for nonelective hospitalizations, mainly for acute infections. This study examined the prevalence of hypercapnia in children on chronic ventilatory support during an acute admission. Methods This retrospective study included children aged 0 to 18 years who regularly used bilevel positive airway pressure or continuous positive airway pressure at home, and who were diagnosed with an acute infection, and were hospitalized at the pediatrics department or pediatric intensive care unit. Capillary blood gas analysis and parameters of the built‐in software of the home ventilator were recorded. Results Among the 43 cases included, hypercapnia was prevalent in 23% with a mean partial pressure of carbon dioxide of 51.7 ± 6.4 mm  Hg. These children also had lower oxygen saturation levels. The respiratory rate 48 hours before admission was significantly higher in the hypercapnic group and the volume guarantee mode was less frequently used in the hypercapnic group. Conclusion Approximately, a quarter of the cases of chronic home ventilation experience hypercapnia during an acute infection. Our data warrant a prospective study on the monitoring of respiratory rate in patients with chronic respiratory insufficiency as an indicator for hospitalizations with hypercapnia; we also recommend the use of volume guarantee mode of ventilation to prevent hypercapnia.