Spontaneous Uterine Rupture in a Multigravid Pregnant Woman with Unscarred Uterus on Chronic Steroid Use: A Case Report.

BACKGROUND: Uterine rupture in pregnancy is associated with severe maternal and fetal complications. Although it is a rare event, uterine rupture has been associated with certain risk factors. Glucocorticoids are known to weaken skeletal muscles; however, there have been no studies on the effects of chronic steroid use on the uterine myometrium. CASE: We present the case of a 40-year-old multigravid woman who experienced a posterior uterine wall rupture on an unscarred uterus. She was on chronic glucocorticoids for the treatment of psoriatic arthritis. We hypothesize that the catabolic effects of glucocorticoids on skeletal muscles also weakened the uterine myometrium, leading to a higher risk of uterine rupture. CONCLUSION: Uterine rupture may be associated with chronic use of corticosteroids. Identifying the different risk factors for uterine rupture can lead to more prompt diagnosis and management of uterine rupture, resulting in better maternal and fetal outcomes.

A Case Series of Patients with Large Uterine Fibroids and Venous Thromboembolisms.

OBJECTIVE: The purpose of this case series is to identify the clinical characteristics of women with uterine fibroids who developed venous thromboembolisms (VTE) and possible risk factors for the development of VTE in this group. DATA SOURCES: We conducted a systematic search of the Medline, Embase, Cochrane and Scopus databases to retrieve case reports and case series that describe women with an enlarged uterus and VTE. The databases were searched up to August 2019. STUDY SELECTION: A total of 1485 articles were identified by a librarian. All case series and case reports that reported uterine weight and size of the fibroids were included. DATA EXTRACTION AND SYNTHESIS: A total of 27 articles were included, describing 35 patients who developed VTE in the presence of uterine fibroids. On average, the uterus measured 22.9 ± 5.0 weeks gestational age and occupied a volume of 2715 cm3 (interquartile range 1296.3-3878.8) on imaging. Two-thirds (60%) of VTEs occurred on the left side, and 87% showed signs of venous compression on imaging. Most patients (89%) required surgical management to relieve the compression caused by the enlarged uterus. CONCLUSION: VTE in cases of large uterine leiomyomas can be associated with mechanical compression, which requires surgical management to relieve compression. There is an obvious increased risk of VTE in patients with venous stasis secondary to uterine compression; however, there is no current evidence evaluating the use of anticoagulation in such patients. Further research is required to determine the role of prophylactic anticoagulation in reducing the risk of VTE in high-risk patients with large uterine fibroids.

Evaluating the Quality and Reliability of Online Information on Social Fertility Preservation.

OBJECTIVE: With the rising trend of postponing motherhood, there has been an increasing rate of infertility. Social fertility preservation offers the potential to overcome this age-related infertility, and many women are turning to the Internet to seek medical information. The aim of this study was to evaluate online information on social fertility preservation. METHODS: This study used five search terms-"egg freezing," "fertility preservation," "social egg freezing," "social fertility preservation," and "oocyte cryopreservation"-to identify the most popular sites as rated by Google. Accuracy of information and quality of websites were rated on the basis of four categories: Silberg's accountability criteria, Abbott's aesthetic criteria, Flesch-Kincaid readability score, and the Canadian Fertility and Andrology Society (CFAS) and the Society of Obstetricians and Gynaecologists of Canada (SOGC) recommendations (Canadian Task Force classification III). RESULTS: Study investigators identified the 21 most used websites. The average Silberg score was 6.57, with 85.7% of websites meeting the criteria for adequate accountability. Only one website (4.8%) did not meet the criteria for appropriate aesthetic appeal. The average Flesch-Kincaid readability score was 11.39, equivalent to a grade 11 reading level, which is significantly higher than the reading level of the general population. A total of 57% of websites contained less than half of the evidence-based recommendations provided in CFAS and SOGC recommendations. CONCLUSION: Online information on social fertility preservation is easily accessible and aesthetically pleasing, but information is not easily readable and does not reflect evidence-based recommendations. Hence, health care professionals must fill the knowledge gaps and adequately counsel their patients to optimize a woman's chance at a successful pregnancy.

Letrozole and Unexplained Infertility: A Contemporary Meta-analysis.

The results of a meta-analysis comparing the efficacy of clomiphene versus letrozole among couples with unexplained infertility in 2014 are in contrast to those of a randomized trial in 2015. This new meta-analysis included randomized studies that were not previously included and found that the efficacy of clomiphene or letrozole in women with unexplained infertility is comparable (Canadian Task Force Classification I).

Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.

Congenital myopathies define a heterogeneous group of neuromuscular diseases with neonatal or childhood hypotonia and muscle weakness. The genetic cause is still unknown in many patients, precluding genetic counselling and better understanding of the physiopathology. To identify novel genetic causes of congenital myopathies, exome sequencing was performed in three consanguineous families. We identified two homozygous frameshift mutations and a homozygous nonsense mutation in the mitogen-activated protein triple kinase ZAK. In total, six affected patients carry these mutations. Reverse transcription polymerase chain reaction and transcriptome analyses suggested nonsense mRNA decay as a main impact of mutations. The patients demonstrated a generalized slowly progressive muscle weakness accompanied by decreased vital capacities. A combination of proximal contractures with distal joint hyperlaxity is a distinct feature in one family. The low endurance and compound muscle action potential amplitude were strongly ameliorated on treatment with anticholinesterase inhibitor in another patient. Common histopathological features encompassed fibre size variation, predominance of type 1 fibre and centralized nuclei. A peculiar subsarcolemmal accumulation of mitochondria pointing towards the centre of the fibre was a novel histological hallmark in one family. These findings will improve the molecular diagnosis of congenital myopathies and implicate the mitogen-activated protein kinase (MAPK) signalling as a novel pathway altered in these rare myopathies.

Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia.

Mutations in GALC cause Krabbe disease. This autosomal recessive leukodystrophy generally presents in early infancy as a severe disorder, but sometimes manifests as a milder adult-onset disease with spastic paraplegia as the main symptom. We recruited a family with five affected individuals presenting with adult-onset predominant cerebellar ataxia with mild spasticity. Whole exome sequencing (WES) revealed one novel and one previously reported compound heterozygous variants in GALC. Magnetic resonance imaging (MRI) confirmed the presence of typical Krabbe features. Our findings expand the phenotypic spectrum of adult-onset Krabbe disease and demonstrate the usefulness of combining WES and pattern-specific MRI for the diagnosis of neurodegenerative diseases.

Impact of in vitro fertilization-preimplantation genetic testing (IVF-PGT) funding policy on clinical outcome: An issue that stems beyond effectiveness of treatment.

OBJECTIVE(S): The aim of this study was to compare the patient characteristics, type of genetic disease and inheritance, volume of activity, practice patterns and pregnancy outcomes, in private versus publically funded IVF pre-implantation genetic testing (PGT) for translocation (IVF-PGT-SR) and aneuploidy (PGT-A) periods. STUDY DESIGN: This study retrospectively analyzed data during both privately funded period (PRP) and publically funded period (PUP) of assisted reproductive technology (ART) for a total of 275 patients. 83 patients underwent IVF-PGT-SR and 192 patients underwent IVF-PGT-A. Given that PGT-SR is a chromosomal abnormality hereditary in nature, whereas PGT-A is sporadic in addition to the contrasting funding policies, the two cohorts were analyzed separately. To achieve the proposed objective, the two groups under analysis were grouped in accordance with their respective coverage systems for infertility. RESULTS: Among translocation patients, 94 normal/balanced embryos were obtained from 47 IVF-PGT cycles in PRP whereas 145 embryos were obtained from 92 IVF-PGT cycles in PUP. The average number of embryos transferred per embryo transfer cycle was significantly lower in PUP in comparison to PRP (1.13 vs. 1.74, p < 0.0001). 13 singletons and 2 sets of twins were conceived in PRP. 14 singletons were conceived in PUP. Regardless of funding period, there were more reciprocal translocation carriers (79.4% in PRP and 76.4% in PUP) and more male carriers (82.4% in PRP and 60% in PUP), of which the majority had abnormal sperm parameters. Among aneuploidy patients, on average 2.5 embryos in PRP and 1.4 embryos in PUP were transferred per ET cycle (p = 0.05). There was a 13.3% increase in number of IVF-PGT-A attempts per patient in PRP compared to PUP. Live birth rate per IVF-PGT-A was higher in PRP (29.7% vs. 15%, P = 0.02), which consisted of 48 singletons and 18 multiparous pregnancies in PRP and 9 singletons in PUP. CONCLUSION(S): Public coverage of ART is associated with a greater utilization ART, as well as a reduced number in embryo transfer (ET) per cycle, a lower proportion of cycles resulting in successful pregnancy and a lower multiple birth rate. Our study ultimately shines light on the effect of providers' and patients' monetary conscious on pregnancy outcome.