Color Doppler examination for the diagnosis of subacute puerperal uterine inversion

Obstetric uterine inversion is a rare and life-threatening complication. Diagnosis is often difficult to establish, particularly in recurrent or chronic cases. We performed color Doppler examination in addition to B-mode sonography in a case of subacute recurrent uterine inversion. Identification of the vessels providing uterine blood supply helped to clarify the distorted anatomy; furthermore, information about tissue viability was gained. We propose to perform color Doppler examination in all cases with suspected uterine inversion or vaginal masses of unknown origin

Amniotic fluid embolism-associated coagulopathy: a single-center observational study

Introduction Amniotic fluid embolism (AFE) continues to be a rare, enigmatic condition with high maternal mortality. It is characterized by cardiovascular compromise, loss of consciousness or other neurologic symptoms, and coagulopathy. The latter is usually treated according to existing protocols for consumptive coagulopathy. Methods Serial analyses of a panel of hemostaseological parameters were performed in three consecutive cases of AFE that occurred at our institution. Results All mothers and neonates survived without major sequelae. Disproportionately low levels of fibrinogen and factor five, and exorbitantly elevated d-dimers were present in all cases, whereas markers of consumptive coagulopathy, platelets and antithrombin in particular, were only slightly reduced. Discussion Our results support hyperfibrinolysis as contributing factor of AFE-associated coagulopathy. We, therefore, propose a treatment algorithm which includes early use of tranexamic acid and transfusion of red blood cells and fresh frozen plasma, adding fibrinogen if hemostasis is not readily achieved

Progressive cardiac dysfunction in Bethlem myopathy during pregnancy

Bethlem myopathy is a congenital myopathy presenting with muscle weakness and joint abnormalities. Although cardiac involvement is frequent in other inherited myopathies, it has not yet been described in Bethlem myopathy.status: publishe

Resistin in pregnancy: Analysis of determinants in pairs of umbilical cord blood and maternal serum

Objective: Despite intensive research on the cytokine resistin only few studies investigated mother-newborn-pairs during healthy pregnancy and reported about interactions with clinical obstetric variables or other cytokines. Comparison of existing studies is difficult due to differences between assays, sample collection, gestational age, definition of healthy controls and patient characteristics. Furthermore, differences between rodent models and humans do not allow for a direct comparison. Methods: In this cross-sectional, prospective study 109 healthy mother-newborn pairs were analyzed. Maternal venous blood samples were taken on admission to the labor ward; newborn venous blood samples were drawn from the placental part of the umbilical cord (UC), immediately after clamping. Resistin, leptin, adiponectin, TNF-α, IL-6 and brain derived neurotrophic factor (BDNF) serum concentrations were measured with commercially available immunoassays. Determinants of maternal and newborn resistin levels were analyzed using simple and multiple linear regression. Results: UC resistin levels were higher than maternal concentrations (median 17.69 ng/mL, IQR 7.36 vs. median 8.04 ng/mL, IQR 4.30). Correlation between UC and maternal resistin levels was moderate (R = 0.503, p < 0.01). In multiple regression analysis levels of maternal resistin and newborn TNF-α remained significant determining factors for UC resistin levels. Gestational age and maternal BDNF-levels remained significant factors for maternal resistin levels. Conclusion: In healthy, term newborns and their respective mothers a positive correlation between maternal and newborn levels and an association with gestational age around term can be found and point to a placental source of resistin. Further investigations are needed to clarify the possible contribution of transplacental transport of resistin into the fetal circulation. Except for gestational age most of the clinical obstetric variables tested do not seem to be determining factors for fetal or maternal resistin. Interactions of resistin with other cytokines like TNF-α and BDNF could be the missing link for the conflicting results in literature

Brain-Derived Neurotrophic Factor in Gestational Diabetes: Analysis of Maternal Serum and Cord Blood Pairs and Comparison of Dietary- and Insulin-Dependent GDM

The Objective of our study was to investigate the influence of dietary (dGDM) and insulin-dependent (iGDM) gestational diabetes (GDM) on BDNF blood levels of corresponding maternal-neonatal pairs and compare them to pregnancies unaffected by GDM. Blood samples from 293 maternal-neonatal pairs were analyzed. Statistical analysis was performed using multiple regression analysis for association of log-transformed maternal and neonatal BDNF levels in relation to GDM, gestational age, neonatal sex, and mode of delivery. This was followed by a 2:1 matching of healthy and diabetic pairs. Maternal and neonatal BDNF levels were lowest in the iGDM group, followed by the dGDM group and healthy controls (maternal: healthy 665 &plusmn; 562 (26&ndash;2343) pg/mL vs. dGDM 593 &plusmn; 446 (25&ndash;1522) pg/mL vs. iGDM 541 &plusmn; 446 (68&ndash;2184) pg/mL; neonate: healthy 541 &plusmn; 464 (9.5&ndash;2802) pg/mL vs. dGDM 375 &plusmn; 342 (1&ndash;1491) pg/mL vs. iGDM 330 &plusmn; 326 (47&ndash;1384) pg/mL). After multiple regression analysis and additional 2:1 matching neonatal log-BDNF was significantly lower (&minus;152.05 pg/mL, p = 0.027) in neonates of mothers with GDM compared to healthy pairs; maternal log-BDNF was also lower (&minus;79.6 pg/mL), but did not reach significance. Our study is the first to analyze BDNF in matched maternal-neonatal pairs of GDM patients compared to a metabolically unaffected control group

Genome-wide survey for microdeletions or -duplications in 155 patients with lower urinary tract obstructions (LUTO)

Lower urinary tract obstruction (LUTO) is, in most cases, caused by anatomical blockage of the bladder outlet. The most common form are posterior urethral valves (PUVs), a male-limited phenotype. Here, we surveyed the genome of 155 LUTO patients to identify disease-causing CNVs. Raw intensity data were collected for CNVs detected in LUTO patients and 4.392 healthy controls using CNVPartition, QuantiSNP and PennCNV. Overlapping CNVs between patients and controls were discarded. Additional filtering implicated CNV frequency in the database of genomic variants, gene content and final visual inspection detecting 37 ultra-rare CNVs. After, prioritization qPCR analysis confirmed 3 microduplications, all detected in PUV patients. One microduplication (5q23.2) occurred de novo in the two remaining microduplications found on chromosome 1p36.21 and 10q23.31. Parental DNA was not available for segregation analysis. All three duplications comprised 11 coding genes: four human specific lncRNA and one microRNA. Three coding genes (FBLIM1, SLC16A12, SNCAIP) and the microRNA MIR107 have previously been shown to be expressed in the developing urinary tract of mouse embryos. We propose that duplications, rare or de novo, contribute to PUV formation, a male-limited phenotype

Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction

Congenital lower urinary-tract obstruction (LUTO) is caused by anatomical blockage of the bladder outflow tract or by functional impairment of urinary voiding. About three out of 10,000 pregnancies are affected. Although several monogenic causes of functional obstruction have been defined, it is unknown whether congenital LUTO caused by anatomical blockage has a monogenic cause. Exome sequencing in a family with four affected individuals with anatomical blockage of the urethra identified a rare nonsense variant (c.2557C>T [p.Arg853*]) in BNC2, encoding basonuclin 2, tracking with LUTO over three generations. Resequencing BNC2 in 697 individuals with LUTO revealed three further independent missense variants in three unrelated families. In human and mouse embryogenesis, basonuclin 2 was detected in lower urinary-tract rudiments. In zebrafish embryos, bnc2 was expressed in the pronephric duct and cloaca, analogs of the mammalian lower urinary tract. Experimental knockdown of Bnc2 in zebrafish caused pronephric-outlet obstruction and cloacal dilatation, phenocopying human congenital LUTO. Collectively, these results support the conclusion that variants in BNC2 are strongly implicated in LUTO etiology as a result of anatomical blockage