In a family two heterozygous children and a homozygous phenotypically normal father with a fragile site at 17p12 were discovered. This observation confirms the opinion that even homozygosity for this fragile site is phenotypically harmless.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/BF00292597 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Surgical management of endometrial cancer in patient with musculocontractural Ehlers-Danlos Syndrome harboring pathogenic variants in CHST14 (mcEDS-CHST14): A case report.
Gynecol Oncol Rep
February 2025
Department of Obstetrics and Gynecology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan.
Introduction: Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a rare autosomal recessive connective tissue disorder caused by systemic depletion of dermatan sulfate. Symptoms characteristic of mcEDS include multiple contractures, fragile skin with subcutaneous bleeding, and hypermobile joints, which suggest difficulty in perioperative management. However, safe surgical techniques and perioperative management of this disorder remain unknown because of its rarity.
View Article and Find Full Text PDFEnvironmental impact of the launch vehicle "Soyuz-FG" emergency falling in Kazakhstan.
Environ Sci Pollut Res Int
January 2025
Lomonosov Moscow State University, Moscow, Russia.
On October 11, 2018, in the Ulytau region of the Republic of Kazakhstan, the Soyuz-FG launch vehicle carrying a crewed MS-10 spacecraft failed. It resulted in the release into the fragile arid ecosystems of rocket propellants, i.e.
View Article and Find Full Text PDFInhibition of GSK3β is synthetic lethal with FHIT loss in lung cancer by blocking homologous recombination repair.
Exp Mol Med
January 2025
Cancer Centre, Faculty of Health Sciences, University of Macau, Taipa, Macau SAR, China.
FHIT is a fragile site tumor suppressor that is primarily inactivated upon tobacco smoking. FHIT loss is frequently observed in lung cancer, making it an important biomarker for the development of targeted therapy for lung cancer. Here, we report that inhibitors of glycogen synthase kinase 3 beta (GSK3β) and the homologous recombination DNA repair (HRR) pathway are synthetic lethal with FHIT loss in lung cancer.
View Article and Find Full Text PDFAssessment of the American College of Surgeons Surgical Risk Calculator (ACS-SRC) for Prediction of Early Postoperative Complications in Patients Undergoing Cytoreductive Surgery for Ovarian Peritoneal Carcinomatosis.
Curr Oncol
December 2024
Department of Digestive Surgery and Digestive Surgical Oncology, Jules Bordet Institute, The Brussels University Hospital (H.U.B), Université Libre de Bruxelles (ULB), Meylemeersch Street 90, 1070 Brussels, Belgium.
Ovarian cancer (OC) is diagnosed at a locally advanced stage in two-thirds of cases. The first line of treatment consists of cytoreductive surgery (CRS) combined with neoadjuvant and/or adjuvant chemotherapy. However, CRS can be associated with high rates of postoperative complications (POCs), and detection of fragile patients at high risk of POCs is important.
View Article and Find Full Text PDFRepair of Acute Grade-3 Combined Posterolateral Corner Avulsion Injuries Using a Transosseous Krackow Suture Pull-Through Technique.
JBJS Essent Surg Tech
December 2024
Department of Orthopaedics and Rehabilitation, Yale School of Medicine, New Haven, Connecticut.
Background: For complete disruption of the posterolateral corner (PLC) structures, operative treatment is most commonly advocated, as nonoperative treatment has higher rates of persistent lateral laxity and posttraumatic arthritis. Some studies have shown that acute direct repair results in revision rates upwards of 37% to 40% compared with 6% to 9% for initial reconstruction. In a recent study assessing the outcomes of acute repair of PLC avulsion injuries with 2 to 7 years of follow-up, patients with adequate tissue were shown to have a much lower failure rate than previously documented.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!