ABSTRACT
BACKGROUND: Prenatal diagnosis of craniosynostosis remains rare and challenging, easier in syndromes with craniosynostosis due to the association with other sonographic anomalies. Crouzon syndrome is the most frequent syndrome with craniosynostosis but is difficult to detect antenatally because of mild skull deformation without specific associated anomaly during gestation. CASE: This report presents the case of a fetus with Crouzon syndrome related to the variant c.1646A>C in exon 14 of the FGFR2 gene and presenting with apparently isolated scaphocephaly on fetal US. CONCLUSION: This observation supports the interest of systematic prenatal panel genes testing when facing an apparently isolated craniosynostosis diagnosed on fetal imaging, even if non-syndromic craniosynostosis are much more frequent in such situation. TEACHING POINTS: Syndromic craniosynostosis can appear as apparently isolated form on fetal imaging. Systematic prenatal panel genes testing can be contributive even when facing an apparently isolated craniosynostosis on fetal imaging.
Subject(s)
Craniofacial Dysostosis , Craniosynostoses , Pregnancy , Female , Humans , Craniosynostoses/diagnostic imaging , Craniosynostoses/genetics , Craniofacial Dysostosis/genetics , Prenatal Diagnosis , Head , SyndromeABSTRACT
The incidence of neoplasia during pregnancy is low, 1/1000 pregnancies. The most common cancers diagnosed during pregnancy are breast and cervical cancer. Pseudomyxoma peritonei (PMP) is a rare syndrome (1/1 000 000) characterized by the presence of gelatinous ascites and disseminated intra-peritoneal mucinous tumors. The origin of this syndrome is, in most of cases, a tumor of the appendix. A PMP diagnosis during pregnancy is an extremely rare event. We present the medical history of a 34-year-old woman diagnosed with a PMP at 29 weeks of amenorrhea, during the management of an ovarian masse. We preserved the pregnancy until 37 weeks of amenorrhea. She had a vaginal delivery. At 4 weeks post-partum, she had an extensive cytoreduction with intraperitoneal chemotherapy. We present literature review of PMP discover during pregnancy and a discussion about treatment of these PMP. We also discuss management of an ovarian masse diagnosis during pregnancy.
Subject(s)
Ovarian Neoplasms , Peritoneal Neoplasms , Pseudomyxoma Peritonei , Adult , Amenorrhea , Female , Humans , Ovarian Neoplasms/diagnosis , Ovarian Neoplasms/surgery , Peritoneal Neoplasms/diagnosis , Peritoneal Neoplasms/therapy , Pregnancy , Pregnant Women , Pseudomyxoma Peritonei/diagnosis , Pseudomyxoma Peritonei/surgeryABSTRACT
ABSTRACT: Therapeutic drug monitoring of hydroxychloroquine (HCQ) has been recommended to optimize the treatment of patients with COVID-19. The authors describe an ultrahigh-performance liquid chromatography tandem spectrometry method developed in a context of emergency, to analyze HCQ in both human plasma and blood samples. After adding the labeled internal standard and simple protein precipitation, plasma samples were analyzed using a C18 column. Blood samples required evaporation before analysis. The total chromatographic run time was 4 minutes (including 1.5 minutes of column equilibration). The assay was linear over the calibration range (r2 > 0.99) and up to 1.50 mcg/mL for the plasma samples (5.00 mcg/mL for the blood matrix). The limit of quantification was 0.0150 mcg/mL for plasma samples (0.05 mcg/mL blood matrix) with accuracy and precision ranging from 91.1% to 112% and from 0.750% to 11.1%, respectively. Intraday and interday precision and accuracy values were within 15.0%. No significant matrix effect was observed in the plasma or blood samples. This method was successfully applied to patients treated for COVID-19 infection. A simple and rapid ultrahigh-performance liquid chromatography tandem spectrometry method adapted to HCQ therapeutic drug monitoring in the context of SARS-CoV-2 infection was successfully developed and validated.
