Treatment with ketoconazole during the critical period of organogenesis did not cause congenital birth defects to the male fetus of a woman with Cushing's disease. This report should be taken into account for future cases of unplanned pregnancies in women with Cushing's syndrome treated with ketoconazole, as well in those cases in which other therapeutic options are not feasible.
Transabdominal and transvaginal Doppler ultrasound measurements of the uterine artery PI were significantly different. The latter approach yielded significantly higher values than the first.
Enhancer-promoter dynamics are critical for the spatiotemporal control of gene expression, but it remains unclear how these dynamics are controlled by chromatin regulators, such as the nucleosome remodelling and deacetylase (NuRD) complex. Here, we use Hi-C experiments to show that the intact NuRD complex increases CTCF/Cohesin binding and the probability of the interaction of intermediate-range (~1Mb) genomic sequences.To understand how NuRD alters 3D genome structure in this way, we developed an approach to segment and extract key biophysical parameters from trajectories of the NuRD complex determined using live-cell 3D singlemolecule imaging. Unexpectedly, this revealed that the intact NuRD complex decompacts chromatin structure and makes NuRD-bound sequences move faster, thus increasing the overall volume of the nucleus that these sequences explore. Interestingly, we also uncovered a rare fast-diffusing state of chromatin that exhibits directed motion. The intact NuRD complex reduces the amount of time that enhancers/promoters remain in this fastdiffusing state, which we propose would otherwise re-organise enhancer-promoter proximity. Thus, we uncover an intimate connection between a chromatin remodeller and the spatial dynamics of the local region of the genome to which it binds.3D genome organisation is thought to be critical for the spatiotemporal control of gene expression. However, little is known about the multi-scale chromatin dynamics of cis-regulatory elements or how they relate to genome organisation. To probe these dynamics at the single-cell level, one of two complementary methods are typically used: either live-cell imaging 1-4 or single nucleus versions of chromosome conformation capture experiments (such as Hi-C), which reveal the proximity of DNA sequences in different individual fixed cells [5][6][7][8][9][10][11][12][13][14][15][16] . For example, live-cell tracking of enhancers and promoters has revealed fast diffusion (or 'stirring') during transcription 4 , but the mechanisms underlying these changes in enhancer dynamics or how they relate to Hi-C measurements of enhancer-promoter proximity remain unclear.The nucleosome remodelling and deacetylase (NuRD) complex is a highly conserved 1 MDa multisubunit protein complex that we have previously shown clusters in 3D space in the nucleus with active enhancers and promoters 16 . It combines two key enzymatic activities -nucleosome remodelling via its helicasecontaining ATPase (predominantly CHD4 in ES cells) and lysine deacetylation via its HDAC1/2 subunits [16][17][18][19][20][21][22] .These activities are thought to be present in two sub-complexes (Figure 1a). HDAC1/2 associates, along with the histone chaperones RBBP4/7, with the core scaffold proteins MTA1/2/3 (metastasis tumour antigens) to form a stable sub-complex with deacetylase activity 23 . The nucleosome remodeller CHD4 interacts with chromatin by itself and may also form a second sub-complex with GATAD2A/B and DOC1 (CDK2AP1) 23-25 .The methyl-CpG DNA binding domain proteins MBD2/3 ...
Epileptic seizures due to pyridoxine deficiency, although rare, are known to occur. They are characterized by untreatable convulsions during childhood. We present the case of an epileptic status resistant to conventional treatment in a 29-year-old woman, with no previous history of epileptic seizures, in the 29th week of pregnancy, who responded to the intravenous administration of pyridoxine.
Transvaginal measurement of cervical length during routine fetal morphological examination between the 18th and 22nd week of pregnancy helps identify asymptomatic women at risk for preterm delivery.
We report the case of an intrapericardial teratoma, a rare tumour in infants, prenatally diagnosed and successfully treated thanks to a multidisciplinary approach. An intrapericardial cystic mass (2.5 cm) with pericardial effusion was identified in a foetus at 32 weeks gestational age (GA). Intrauterine pericardiocentesis was performed immediately (40 ml) and repeated at 33 weeks (25 ml) and then at 34 weeks GA, just before birth (36 ml). Considering the rapid growth of the mass and the risk of hydrops, vaginal delivery was induced. A baby girl weighing 1.98 kg was born without cardiorespiratory compromise. Echocardiography and thoracic CT-scan located the 4.0×3.0 cm cystic mass between the left atrial appendage and the left superior pulmonary vein. At three days of life, the mass was completely removed without cardiobypass. It arose from the ascending aorta. Postoperative course was uneventful. Pathology diagnosed an immature intrapericardial teratoma. As long-term follow-up is required, alpha-fetoprotein can be a valid tool to monitor a possible recurrence. A multidisciplinary approach allows successful prenatal management and postnatal tumour surgery.
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