Publications by authors named "B WEIL"

Background: Patients with systemic lupus erythematosus (SLE) with inadequate responses to standard therapies have unmet therapeutic needs. The immunomodulatory, proangiogenic, and antifibrotic properties of mesenchymal stromal cells support their use in treating patients with SLE. We aimed to assess the safety of a single intravenous infusion of allogeneic umbilical cord-derived mesenchymal stromal cells in patients with severe SLE.

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  • Current standard genetic testing methods struggle to provide detailed information on duplications and balanced structural variants (SV), which can be crucial for clinical assessment.
  • A retrospective study from 2023 examined cases where SVs detected by standard methods were further analyzed using optical genome mapping (OGM), revealing that OGM successfully resolved six out of seven cases.
  • The study concludes that OGM is a valuable tool for characterizing SVs, providing essential information in certain clinical situations, particularly in prenatal cases or when family analysis is not feasible.
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  • Many childhood cancer survivors are at risk for cardiovascular issues and should receive carotid ultrasounds, especially 10 years post neck radiation therapy of 40 Gy or more, according to guidelines.
  • A study examined nearly 10,000 childhood cancer survivors, revealing that only 29.7% of those who had high-dose neck radiation had a carotid ultrasound, compared to 10.7% of those who had lower doses and just 4.7% of siblings without cardiovascular conditions.
  • Factors like being over 50, recent visits to a cancer specialist, and undergoing other tests, like colonoscopies or echocardiograms, increase the likelihood of having a carotid ultrasound among these survivors.
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Congenital proximal renal tubular acidosis (pRTA) is a rare systemic disease caused by mutations in the gene that encodes the electrogenic sodium bicarbonate cotransporter, NBCe1. The major NBCe1 protein variants are designated NBCe1-A, NBCe1-B, and NBCe1-C. NBCe1-A expression is kidney-specific, NBCe1-B is broadly expressed and is the only NBCe1 variant expressed in the heart, and NBCe1-C is a splice variant of NBCe1-B that is expressed in the brain.

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Germ cell tumors (GCT) are a complex, heterogeneous collection of tumors that may present in either gonadal or extragonadal sites. They consist of a variety of benign and malignant histologies that can occur at several locations throughout the body. An important component of treatment is surgical resection, and while the key components of resection are site specific, the universal goals of GCT resection include the complete resection of tumor without violating the tumor capsule, while preserving function of surrounding organs, minimizing morbidity, and assessing for regional spread.

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