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A rare mosaic trisomy 22 syndrome in a 7-year-old boy: rare case report.
Sudan J Paediatr
January 2024
Elite Center for Genetics Diagnosis, Khartoum, Sudan.
Trisomy 22 is a rare autosomal constitutional chromosomal disorder with high survival incompatibility being the third most frequent trisomy in spontaneous abortions and accounting for 10%-15% of all cases. Mosaic trisomy 22 is a less severe variant of the disorder associated with mild phenotype and longer lifespan compared to cases with complete trisomy 22. To date, there have only been 25 reported cases of trisomy 22 worldwide.
View Article and Find Full Text PDFAcute Pancreatitis in Pregnancy and Puerperium: Assessing Maternal and Fetal Impact, Etiologies, and Clinical Outcomes at a Tertiary Care Hospital in Pakistan.
Cureus
December 2024
Obstetrics and Gynaecology, Aga Khan University Hospital, Karachi, PAK.
Introduction The association of acute pancreatitis with adverse obstetric outcomes remains subject to great controversy. Outcomes are affected by the standard of care available, and hence, will be better in developed countries than in underdeveloped countries like Pakistan. Therefore, this study aimed to understand the clinical characteristics and treatment of acute pancreatitis in pregnancy (APIP) and its associated maternal and neonatal outcomes in a tertiary care hospital in Pakistan.
View Article and Find Full Text PDFFirst-trimester Doppler Ultrasound for Predicting Successful Management of Pregnancy with Recurrent Pregnancy Losses Due to Antiphospholipid Syndrome and Thrombophilia: A Cohort Study.
J Hum Reprod Sci
December 2024
Department of Obstetrics and Gynecology, Faculty of Medicine Airlangga University, Airlangga University Hospital, Surabaya, Indonesia.
Background: Recurrent pregnancy loss (RPL) often stems from a hypercoagulable state that exacerbates conditions such as antiphospholipid syndrome (APS) and thrombophilia, leading to early placental issues. Although treatments such as low-molecular-weight heparin (LMWH) and low-dose aspirin (LDA) are used, outcomes vary. This study proposes using first-trimester Doppler ultrasound - specifically, uterine radial artery resistance index (URa-RI) at 8 weeks and uterine artery pulsatility index (Ut-PI) with pre-diastolic notching (Ut-notch) at 11-13 weeks - to better predict successful pregnancies and reduce risks of adverse outcomes.
View Article and Find Full Text PDFUterine arteriovenous malformations as a rare differential diagnosis of abnormal uterine bleeding: A case report.
Int J Surg Case Rep
January 2025
Department of Gynecology-Obstetrics, Mohammed V Military University Hospital, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco.
Introduction And Importance: Uterine arteriovenous malformations (UAVMs) are rare vascular anomalies caused by abnormal connections between uterine arteries and veins. They can lead to severe bleeding, requiring prompt and accurate diagnosis. Historically treated with hysterectomy, transcatheter vascular embolization has emerged as a fertility-sparing alternative.
View Article and Find Full Text PDFCase report: Management of acute progressive hemothorax in pregnancy complicated by maternal pulmonary sequestration.
Int J Gynaecol Obstet
January 2025
Cheeloo College of Medicine, Shandong University, Jinan, Shandong, China.
Pulmonary sequestration is a rare pulmonary malformation, typically characterized by asymptomatic presentation or recurrent pulmonary infections, with chest pain and hemothorax being exceedingly rare occurrences. The rupture and hemorrhage of maternal pulmonary sequestration during pregnancy pose a life-threatening condition that is challenging to diagnose. We present a case of a 37-year-old pregnant woman in her third trimester who presented with acute progressive hemothorax, a complication arising from maternal pulmonary sequestration.
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