Leonie Speksnijder

A de novo GLI3 mutation in a patient with acrocallosal syndrome

Acrocallosal syndrome is characterized by postaxial polydactyly, macrocephaly, agenesis of the corpus callosum, and severe developmental delay. In a few patients with this disorder, a mutation in the KIF7 gene has been reported, which was associated with impaired GLI3 processing and dysregulaton of GLI3 transcription factors. A single patient with acrocallosal syndrome and a de novo p.Ala934Pro mutation in GLI3 has been reported, whereas diverse and numerous GLI3 mutations have also been described in syndromes with overlapping clinical manifestations, including Greig cephalopolysyndactyly syndrome, Pallister–Hall syndrome, trigonocephaly with craniosynostosis and polydactyly, oral–facial‐digital syndrome, and non‐syndromic polydactyly. Here, we describe a second patient with acrocallosal syndrome, who has a de novo, novel c.2786T > C mutation in GLI3, which predicts p.Leu929Pro. This mutation is in the same domain as the mutation in the previously reported patient. These data confirm that mutations in GLI3 are a cause of the acrocallosal phenotype.

Amino-terminal pro-brain natriuretic peptide (NT-proBNP) is a biomarker of cardiac filling pressures in pre-eclampsia

OBJECTIVE To evaluate if amino-terminal pro-brain natriuretic peptide (NT-proBNP) plasma levels reflect intracardiac filling pressures in pre-eclamptic patients. STUDY DESIGN In a cross-sectional study we investigated 22 untreated critically ill pre-eclamptic women between 22 and 34 weeks gestation. All patients underwent intra-arterial blood pressure and central hemodynamic measurements and NT-proBNP was determined in stored plasma. Baseline characteristics, plasma NT-proBNP concentrations and relevant laboratory variables were investigated for correlations with hemodynamic values using Spearmans rank correlation test. RESULTS No significant correlations were demonstrated between NT-proBNP concentrations and variables associated with the severity of the pre-eclampsia. We found significant positive correlations between NT-proBNP and diastolic pulmonary pressure (r = 0.59; p = 0.005) and pulmonary capillary wedge pressure (PCWP) (r = 0.51; p = 0.015). Multiple linear regression analysis showed that the association between NT-proBNP and PCWP was not affected by creatinine level. CONCLUSION NT-proBNP is a biomarker of left ventricular cardiac filling pressures in untreated pre-eclamptic patients.

Agreement and reliability of pelvic floor measurements during contraction using three‐dimensional pelvic floor ultrasound and virtual reality

Virtual reality is a novel method of visualizing ultrasound data with the perception of depth and offers possibilities for measuring non‐planar structures. The levator ani hiatus has both convex and concave aspects. The aim of this study was to compare levator ani hiatus volume measurements obtained with conventional three‐dimensional (3D) ultrasound and with a virtual reality measurement technique and to establish their reliability and agreement.

Spontaneous pneumomediastinum: a rare presentation of diabetic ketoacidosis in a pregnant woman

Pneumomediastinum (PM) or mediastinal emphysema is defined as the presence of free air around mediastinal structures. Spontaneous (or atraumatic) pneumomediastinum (SPM) is a rare complication during pregnancy. Primary or spontaneous PM can arise due to increased intra-alveolar pressure. Secondary PM is due to direct trauma, intrathoracic infections or violation of the aerodigestive track. This case report describes a pregnant woman newly diagnosed with diabetes presenting with an SPM due to vigorously vomiting and Kussmauls breathing caused by diabetic ketoacidosis. Appropriate management of SPM and its underlying cause is required to reduce the risks for both mother and child.

Association of levator injury and urogynecological complaints in women after their first vaginal birth with and without mediolateral episiotomy

BACKGROUND: Pelvic organ prolapse is a common health problem in women and has a negative influence on quality of life. A major cause of pelvic organ prolapse is levator injury. OBJECTIVE: The objective of the study was to evaluate the association of mediolateral episiotomy with levator injury (levator avulsion, ballooning, or combined) and urogynecological complaints. STUDY DESIGN: A prospective observational cohort study was performed in 204 primiparous women with a spontaneous vaginal delivery without anal sphincter tear in a general hospital between 2012 and 2015. One hundred three of these women had had a mediolateral episiotomy. Validated urogynecological questionnaires and transperineal 3‐dimensional/4‐dimensional ultrasound were completed after delivery. Outcome measures were levator avulsion, ballooning (hiatal area of more than 25 cm2), and urogynecological questionnaire scores. Statistical analysis was performed using univariate and multiple logistic regression analysis. RESULTS: The median time at investigation after vaginal delivery was 13 months (range 6–33). Levator injury (avulsion, ballooning, or combined) was identified in 35 of the 103 women who had undergone mediolateral episiotomy (40.0%) and 33 of the 101 women without episiotomy (32.7%) (P = .69). No differences were found in the incidence of levator avulsion 27 (26.7%) vs 23 (22.8%) (P = .53) or in levator ballooning (20 [19.4%] vs 23 [22.8%] (P = .58) between both groups. There was an association between longer duration of the second stage of labor and the incidence of levator avulsion (odds ratio, 1.24 [95% confidence interval, 1.01–1.52]). Nonocciput anterior fetal position increased the risk of levator ballooning and levator injury (odds ratio, 10.19 [95% confidence interval, 1.89–54.91] and odds ratio, 12.16 [95% confidence interval, 1.41–104.38], respectively). No differences in urogynecological complaints were found. CONCLUSION: Mediolateral episiotomy is not associated with the occurrence of levator injury or urogynecological complaints in women with a spontaneous vaginal delivery who did not obtain an anal sphincter injury. Levator injury was associated with a prolonged second stage of labor and a nonocciput anterior fetal position.

Agreement and reliability of pelvic floor measurements during rest and on maximum Valsalva maneuver using three‐dimensional translabial ultrasound and virtual reality imaging

Imaging of the levator ani hiatus provides valuable information for the diagnosis and follow‐up of patients with pelvic organ prolapse (POP). This study compared measurements of levator ani hiatal volume during rest and on maximum Valsalva, obtained using conventional three‐dimensional (3D) translabial ultrasound and virtual reality imaging. Our objectives were to establish their agreement and reliability, and their relationship with prolapse symptoms and POP quantification (POP‐Q) stage.

OP26.04: Reliability of three-dimensional ultrasound measurements of the levator ani hiatus using virtual reality

cases and persistent incontinence despite successful fistula closure. Patients were examined supine and after voiding if bladder volume was over 50 ml. Volume datasets were obtained on coughing, on maximal Valsalva and pelvic floor muscle contraction. Results: Women were seen prior to (n = 22) or after VVF repair (n = 73). Mean age was 29.5 (16–65), mean parity was 2.7 (range, 0–11). Two patients had only delivered by C/S. Only 2 patients had a significant cystocele (stage 2), 3 a uterine prolapse stage 2 and 13 a rectocele stage 2. Levator dimensions on Valsalva were obtained in 92/95 women. Mean hiatal area on Valsalva was 18.8 cm2 (range, 7.7–45.9), and only 6/92 (7%) fulfilled the criteria for ballooning (hiatal distension >=25 cm2). A levator avulsion as defined on tomographic ultrasound was diagnosed in 27 cases (28%), of which 11 were bilateral. There was a reflex contraction of the levator ani observed on coughing in all but two patients. A levator contraction on request could be obtained in all but 6 women. Conclusions: Abnormal levator function and anatomy in patients with VVF is not uncommon, but no more so than in unselected urogynecological patients in the developed world. There was no evidence of permanent denervation of the levator ani.