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Alkaptonuria: a rare disease with multiorgan manifestation and a long-awaited diagnosis.
BMJ Case Rep
December 2024
Lungemedicinsk, Vejle Sygehus, Vejle, Denmark.
Alkaptonuria is a rare inherited disease resulting from a genetic variant leading to homogentisic acid accumulation in body tissues, causing a broad spectrum of symptoms. Our case involves a Caucasian male diagnosed in his 70s, who shares a constellation of symptoms and the diagnosis with his monozygotic twin brother. The symptoms include early-onset arthropathy, tendinopathy, osteopenia, discolouration of the auricular regions and fingers, scleral discolouration, secondary glaucoma, proteinuria, calcification of the mitral valve and black urethral and prostate stones.
View Article and Find Full Text PDFBirth of a Healthy Monozygotic Twin Foal with Hydrops and a Dead Co-Twin.
Vet Sci
December 2024
Department of Internal Medicine, Reproduction and Population Medicine, Ghent University, Salisburylaan 133, 9820 Merelbeke, Belgium.
Transfer of in vitro-produced (IVP) equine embryos is associated with a higher incidence of monozygotic multiple pregnancies, but this remains a rarity. The outcome of monozygotic twin gestation is poor, and good management techniques are lacking. In addition, hydrops conditions are exceptional in horses, with hydroallantois occurring more frequently than hydramnion.
View Article and Find Full Text PDFRecollections and Reflections on the Reimer Twin Case in Canada: Interview with Dr H. Keith Sigmundson/Tribute and Twin Research Review: Remembering John L. Hopper; Nonhuman Primate Twinning/Human Interest: film; Different Looking Identical Twin Newborns.
Twin Res Hum Genet
December 2024
Department of Psychology, California State University, Fullerton, California, USA.
Dr H. Keith Sigmundson co-authored a seminal article (with the late Dr Milton Diamond) that revealed the truth about a highly controversial twin case. Specifically, the genitals of an infant male monozygotic twin were accidentally destroyed during a medical procedure performed to alleviate his difficult urination.
View Article and Find Full Text PDFGenetic Analysis of Vanishing Twin Syndrome Using Next-Generation Sequencing and Short Tandem Repeat Analysis: A Case Report and Literature Review.
J Investig Med High Impact Case Rep
December 2024
Osaka University, Japan.
Article Synopsis
- Vanishing Twin Syndrome (VTS) is when one fetus in a multiple pregnancy disappears, often discovered through ultrasounds, but its genetic causes are not well understood.
- A case study of a 39-year-old woman who conceived twins via IVF showed that one twin's heartbeat stopped at 11 weeks, confirming VTS while the other developed normally.
- Genetic testing revealed that both fetuses were identical twins with a normal genetic make-up, but the vanished twin exhibited a unique genetic pattern, demonstrating the potential for genetic investigation in cases of VTS.
Ultrasound diagnosis of first trimester umbilical cord entanglement in monochorionic monoamniotic twins - case report and review of the literature.
BMC Pregnancy Childbirth
November 2024
Hadassah University Hospital, Mt Scopus, Obstetrics and Gynecology, Jerusalem, Israel.
Article Synopsis
- * A 32-year-old woman undergoing assisted reproductive technology showed two embryos with regular heartbeats and tightly entangled umbilical cords at 8.5 weeks gestation, identified through various ultrasound techniques.
- * The findings suggest that UCE can be diagnosed as early as eight weeks of gestation, but may indicate a poor prognosis for the pregnancy.
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