Swyer-James-MacLeod syndrome in pregnancy: A case report.

Scant literature is available regarding pregnancy outcomes in women with Swyer-James-MacLeod syndrome, a rare obstructive lung disease. We present a case of a woman with this syndrome in pregnancy. Her baseline pulmonary function tests (PFT) demonstrated moderate airflow obstruction however she had excellent functional status and exercise tolerance. Her disease remained clinically stable in pregnancy. PFTs demonstrated slight worsening of her obstruction with forced expiratory volume in one second (FEV1). 59% and FEV1/FVC ratio 64%. She was diagnosed with gestational diabetes requiring metformin and insulin. Her labor and delivery was uncomplicated with vaginal delivery of a live male at term with no maternal respiratory complications. She did have a delayed postpartum hemorrhage requiring a D&C procedure. This case report demonstrates women with Swyer-James-MacLeod syndrome can have a successful pregnancy and need not avoid pregnancy if desired.

McArdle disease and pregnancy: A case report and scoping review of pregnancy outcomes.

McArdle disease is an autosomal recessive disorder affecting skeletal muscle glycogen metabolism. Limited data are available regarding pregnancy outcomes with this genetic condition. We present a recent case of a woman with McArdle disease, along with a scoping review of all published literature regarding pregnancy and delivery outcomes for women with McArdle disease. A total of 35 cases are summarised. Overall, pregnancy does not worsen or increase the risk for disease flare. Women can successfully deliver vaginally, with consideration of an assisted second stage recommended to reduce the risk of postpartum rhabdomyolysis.

Clinical Conundrum: To Deliver or Not To Deliver a Patient With Pulmonary Edema and Preeclampsia.

While admitted for management of hyperemesis gravidarum and preeclampsia, a 29-year-old gravida 1 para 0 patient with type 1 diabetes mellitus developed acute shortness of breath at 24 weeks gestation. Physical examination and chest X-ray findings were consistent with pulmonary edema, which in pregnancy is most often a severe complication of preeclampsia warranting delivery. The case is discussed with respect to diagnosis and management of pulmonary edema and acquired pulmonary hypertension in pregnancy, including timing and mode of delivery. Many case studies and guidelines advise caution when embarking on pregnancy with primary pulmonary hypertension; however, there is little available to guide clinical management when pulmonary hypertension secondary to fluid overload and preeclampsia develops during pregnancy.

Non-canonical wnt signals antagonize and canonical wnt signals promote cell proliferation in early kidney development.

Canonical and non-canonical wnt signals often have opposed roles. In this report, we use developing Xenopus embryos to demonstrate a novel anti-proliferative role for non-canonical wnt signals in the very earliest stages of kidney development. Non-canonical wnt signals were down-regulated using PDZ domain mutants of dishevelled 2 and up-regulated using wild-type vang-like 2, while canonical signals were manipulated using dominant-negative forms of lef1 or treatment with lithium. When non-canonical signals are down-regulated in the developing Xenopus pronephros, cell proliferation rates increased and when canonical signals were shutdown the opposite occurred. Treatment with lithium chloride has a powerful pro-proliferative effect on the forming nephric primordium. Together these data show that in addition to previously documented antagonisms between these distinct wnt signaling pathways, they also have opposing effects on cell division.

Multichannel wholemount fluorescent and fluorescent/chromogenic in situ hybridization in Xenopus embryos.

In situ hybridization (ISH) is widely used to study the spatial distribution of gene expression in developing embryos. It is the method of choice to analyze the normal pattern of expression of a gene and also to characterize how the expression of a gene, or a group of genes, is altered in response to experimental or genetic manipulations. The standard protocols for this technique use a chromogenic reaction that produces a purple or red precipitate in cells expressing the target gene. This technique has significant disadvantages when compared with fluorescent techniques, as it cannot detect regions of overlap and external staining masks internal staining. We present a protocol for three-channel fluorescent ISH (FISH) optimized for wholemount analysis of large vertebrate embryos. Multichannel FISH in combination with immunofluorescence or chromogenic ISH offers a suite of approaches that allow accurate mapping of overlapping gene expression patterns in two- and three-dimensions. The time required for the protocol varies depending on the number of channels sampled and ranges from 3 to 5 d plus an additional 2 d to completely wash embryos and prepare for documentation.

Collectrin/tmem27 is expressed at high levels in all segments of the developing Xenopus pronephric nephron and in the Wolffian duct.

Collectrin/tmem27 encodes a transmembrane protein that plays a critical role in amino-acid transport. Originally described as being expressed only in collecting ducts, it has subsequently also been shown to also be expressed in the S1 segment of the proximal tubule of mammalian metanephric nephrons. In this report we describe the expression of collectrin in the simple embryonic kidney of amphibians, the pronephros. Each pronephros contains a single large nephron with a proximo-distal segmentation very similar to that of mammalian metanephric nephrons. Analysis of collectrin expression in pronephroi at a variety of embryonic stages indicates that this gene is expressed at very high levels throughout the pronephric system, including proximal and distal segments and the Wolffian duct. Expression in the pronephros commences at Xenopus embryonic stage 28 which corresponds to when epithelialization begins within the pronephric mesenchyme. Like the Na+K+ATPase/atp1a1, another highly expressed pronephric marker, collectrin is also expressed in the cloaca but not in the cloacal derived posterior segment of the Wolffian duct, the rectal diverticulum. Unlike the Na+K+ATPase, which is expressed at lower levels in proximal portions of the pronephric nephron, expression of collectrin is even throughout all of the pronephric epithelia. This expression domain extends far beyond that shown to express amino-acid transporters and indicates collectrin may function in facilitating additional transport processes. Its high level of expression and broad distribution make it an excellent marker with which to examine pronephric kidney development.