The prenatal finding of a small supernumerary marker chromosome (sSMC) is a challenge for genetic counseling. Our analytic algorithm is based on sSMC frequencies and multicolor FISH to accelerate the procedure. The chromosomal origin, size, and degree of mosaicism of the sSMC then determine the prognosis. We illustrate the effectiveness on 4 prenatally identified de novo mosaic sSMCs derived from chromosomes 13/21, X, 3, and 17. Three sSMC carriers had a good prognosis and apparently healthy children were born, showing no abnormality till the last examination at the age of 4 years. One case had a poor prognosis, and the parents decided to terminate the pregnancy. Our work contributes to the laboratory and clinical management of prenatally detected sSMCs. FISH is a reliable method for fast sSMC evaluation and prognosis assessment; it prevents unnecessary delays and uncertainty, allows informed decision making, and reduces unnecessary pregnancy terminations.
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http://dx.doi.org/10.1159/000488790 | DOI Listing |
Bone
December 2024
University of Sheffield, Sheffield, United Kingdom. Electronic address:
Purpose: This study evaluated the efficacy, safety, pharmacodynamics (PD), pharmacokinetics (PK), and immunogenicity of SB16 versus reference denosumab (DEN) up to 18 months in postmenopausal osteoporosis (PMO) patients, and assessed outcomes after switching from DEN to SB16 compared to those who continued with DEN or SB16.
Methods: 457 PMO patients were initially randomized, with 407 re-randomized at Month 12 to either continue DEN (DEN+DEN), switch to SB16 (DEN+SB16), or continue SB16 (SB16 + SB16) through Month 18. Efficacy was assessed by the percent change from baseline in bone mineral density (BMD) at the lumbar spine, total hip, and femoral neck.
Cureus
October 2024
Department of Neonatology, Corniche Hospital, Abu Dhabi, ARE.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
November 2024
Prenatal Diagnostic Center, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China.
Objective: To explore the value of applying multiple genetic testing techniques for the prenatal diagnosis of Turner syndrome fetuses with complex mosaic small supernumerary marker chromosomes (sSMC).
Methods: Chromosomal karyotypes of amniotic fluid samples from 5 030 pregnant women who had undergone amniocentesis at the Prenatal Diagnosis Center of the Third Affiliated Hospital of Zhengzhou University from January to December 2022 were retrospectively reviewed. Three fetuses with complex mosaicism fetuses (carrying 2 types of sSMC) were selected as the study subjects.
Int J Surg Case Rep
November 2024
Department of General Surgery-colorectal Surgery, Cleveland Clinic, Abu Dhabi, United Arab Emirates.
Introduction: ASPS is a rare, soft tissue tumor which represents 0.2-1 % of soft tissue sarcomas. A characteristic nonreciprocal translocation is found in nearly all cases.
View Article and Find Full Text PDFWorld J Surg
November 2024
Division of General and Acute Care Surgery, Department of Surgery, Medical University of South Carolina, Charleston, South Carolina, USA.
Introduction: Minimally invasive surgery (MIS) has become standard of care in many high-income countries, but its adoption in low- and middle-income countries (LICs/MICs) has been impeded by resource- and training-related barriers. We hypothesized that trainees in MICs perform MIS procedures less often, and that as procedure complexity increases, the rate of MIS decreases.
Methods: A 22-question survey, distributed to representative leaders across Latin America, collected country-specific graduating trainee case requirements and volumes for four index procedures (cholecystectomy, appendectomy, inguinal hernia repair, colectomy) using MIS or open surgery (OS).
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