Publications by authors named "Jenna Lammers"
Article Synopsis
- XIST long noncoding RNA plays a key role in X chromosome inactivation in placental mammals but is present on both X chromosomes in early human embryos without silencing them.
- XACT lncRNA accumulates alongside XIST on active X chromosomes and may counteract XIST's functions.
- Research using human embryonic stem cells reveals that XIST modifies chromatin and reduces transcription of X-linked genes, while XACT's absence does not significantly impact XIST’s activity or gene expression, indicating that XIST has a role prior to XCI and highlights a mechanism of temporary X chromosome dosage compensation.
Background: Dysphagia is a common feature of the natural history of patients with spinal muscular atrophy (SMA). Literature regarding swallowing safety and efficiency is scarce in patients with SMA, particularly in the era of newborn screening programs and disease-modifying therapies.
Objective: To describe the longitudinal changes of swallowing safety and efficiency in children with SMA who received one or more disease modifying therapies METHODS: Case series of patients with SMA followed at the University of Florida from 1 May 2019 to 31 December 2022 who had two or more videofluoroscopy swallowing studies (VFSS), with the first being within 30 days of their first treatment.
Purpose: To describe the feasibility and effect of caregiver-mediated exercise training using a novel Therapeutic Play Gym in 3 neonatal intensive care unit (NICU) graduates with rare neuromuscular diseases.
Summary Of Key Points: Caregivers of 3 medically complex, technology-dependent NICU graduates could not access community-based rehabilitation services after discharging from lengthy initial hospitalizations. These children, diagnosed with spinal muscular atrophy type 0, untreated X-linked myotubular myopathy, and untreated nemaline myopathy 3 (NEM3), completed monthly consultations with a pediatric clinical specialist and 3 assessment appointments.
Gene replacement therapy is a rational therapeutic strategy and clinical intervention for neurodegenerative disorders like Canavan disease, a leukodystrophy caused by biallelic mutations in the aspartoacylase () gene. We aimed to investigate whether simultaneous intravenous (i.v.
View Article and Find Full Text PDFIsolation of individual cells ensures detailed analysis of human embryos and promotes our understanding of molecular mechanisms driving embryo development and cell specification. Here, we present a protocol for the processing of human embryos for single-cell analysis. We describe steps for growing embryos and individualizing cells from the polar and the mural parts of trophectoderm at the blastocyst stage using laser dissection.
View Article and Find Full Text PDFBackground: Sleep disordered breathing (SDB) is common in patients with neuromuscular diseases, including spinal muscular atrophy (SMA). While polysomnography (PSG) findings have been described in natural history studies of patients with SMA, reports regarding PSG in treated children are limited to nusinersen. We aim to describe the sleep characteristics in a cohort of children treated with Onasemnogene-abeparvovec.
View Article and Find Full Text PDFWhat is the best strategy for slowly developing blastocysts?
J Gynecol Obstet Hum Reprod
September 2022
Article Synopsis
- Day 5 fresh blastocyst transfers yield better clinical pregnancy and live birth rates compared to day 6 transfers.
- The study examined the best approach for slowly developing blastocysts, comparing transfers on day 5 vs. day 6 or freezing them.
- Results showed that fresh transfers of expanded blastocysts on day 5 had significantly higher success rates, while slowly developing blastocysts can still be transferred fresh on day 5 instead of delaying or freezing.
One week after fertilization, human embryos implant into the uterus. This event requires the embryo to form a blastocyst consisting of a sphere encircling a cavity lodging the embryo proper. Stem cells can form a blastocyst model that we called a blastoid.
View Article and Find Full Text PDFArticle Synopsis
- Understanding how human embryos develop before implantation can enhance reproductive technologies and stem cell research.
- The study uses advanced techniques like single-cell RNA sequencing to analyze mouse and human embryos' development over time, noting crucial changes in gene expression.
- Key findings include the timing of different cell types forming and specific markers that indicate development stages, paving the way for better insights into embryonic development.
Article Synopsis
- This study evaluates the effectiveness of time-lapse technology (TLT) in improving the total cumulative live birth rate (TCLBR) and shortening the time to live birth (TTLB) compared to conventional incubation (CI) during IVF treatments.
- The research involved 151 couples using TLT and 250 couples using CI, tracking their outcomes up to 2020.
- Results indicated that TLT significantly increased the TCLBR (66.9% vs. 56.4%) and reduced the median time to live birth (464 days vs. 596 days) compared to CI, highlighting its potential benefits in IVF care.
Article Synopsis
- The study investigates the effectiveness of two automated semen analysis systems compared to traditional manual sperm assessment, focusing on male infertility diagnosis.
- Both automated systems showed no significant differences from manual assessments in most sperm parameters, except for sperm morphology, where one system performed slightly poorer than the other.
- The findings support the use of these automated systems in andrology labs for routine sperm testing due to their moderate to high correlation with manual assessments.
Article Synopsis
- * Conducted between May 2013 and August 2017, the study involved analyzing late morphokinetic parameters from 1691 biopsied embryos and 2578 non-biopsied embryos cultured in a time-lapse monitoring (TLM) system.
- * Results showed that late morphokinetic events like compaction and blastulation occurred significantly earlier in the biopsied group, suggesting a potential influence of the biopsy on embryo development that warrants
Article Synopsis
- - The study aimed to evaluate the effectiveness of two versions of the KIDScore™ models in predicting implantation and live birth rates post day 5 embryo transfer, addressing the lack of externally validated predictive models in previous research.
- - Conducted on 210 ICSI cycles using time-lapse imaging, the results showed a 35.7% implantation and live birth rate, with both KIDScore™ models demonstrating a strong correlation with implantation (r=0.96 and r=0.90) but limited predictive power overall (AUC 0.60).
- - Though the KIDScore™ models are associated with implantation success, their predictive capability needs improvement, emphasizing the importance of embryologists' expertise in making the final embryo
Article Synopsis
- The study investigated whether morphokinetic parameters of embryos could help differentiate between balanced and unbalanced embryos in translocation carriers undergoing preimplantation genetic testing.
- Significant differences were found in several morphokinetic parameters and abnormal cellular events, but none were reliable enough to predict chromosomal status accurately.
- The conclusion emphasized that time-lapse imaging should not be used as a diagnostic method for determining chromosomal status in this specific group of patients.
Can time-lapse parameters predict embryo ploidy? A systematic review.
Reprod Biomed Online
April 2018
Embryo morphology assessment performs relatively poorly in predicting implantation. Embryo aneuploidy screening (PGS) has recently improved, but its clinical value is still debated, and the development of a cheap non-invasive method for the assessment of embryo ploidy status is a highly desirable goal. The growing implementation of time-lapse devices led some teams to test the effectiveness of morphokinetic parameters as predictors of embryo ploidy, with conflicting results.
View Article and Find Full Text PDFInduced pluripotent stem cells (iPSCs) have considerably impacted human developmental biology and regenerative medicine, notably because they circumvent the use of cells of embryonic origin and offer the potential to generate patient-specific pluripotent stem cells. However, conventional reprogramming protocols produce developmentally advanced, or primed, human iPSCs (hiPSCs), restricting their use to post-implantation human development modeling. Hence, there is a need for hiPSCs resembling preimplantation naive epiblast.
View Article and Find Full Text PDFPurpose: The purpose of our study was to use time-lapse in order to evaluate the impact of sperm origin (fresh ejaculate or surgically retrieved) on embryo morphokinetic parameters and clinical outcome in intracytoplasmic sperm injection (ICSI) cycles.
Methods: This retrospective monocentric study was conducted in 485 unselected couples undergoing 604 ICSI cycles with embryo culture in the Embryoscope®. Among them, 445 couples underwent ICSI cycle with fresh ejaculated sperm and 40 with surgically retrieved sperm (26 with testicular sperm and 14 with epididymal sperm).
Objective: To study the performance of a previously published implantation prediction model based on morphokinetics in a different setting, in an unselected population and with various embryo transfer strategies.
Design: Retrospective monocentric study.
Setting: University-based assisted reproduction technology (ART) center.
Time-lapse analysis of tripronucleated zygotes obtained in ICSI cycles showed that 75.4% cleaved into embryos. These embryos subsequently demonstrated slower developmental kinetics than normally fertilized embryos.
View Article and Find Full Text PDFObjective: To evaluate the impact of female smoking on early embryo development in vitro using a time-lapse system.
Design: Retrospective analysis of prospectively collected database.
Setting: Assisted reproductive technology (ART) program.