Background: Congenital fused labia (CFL) is defined as a failure or significant delay in the opening of the juvenile sealed labia majora. This phenotype is known to be variably common in adult captive female marmosets but has never been investigated in detail before.
Materials And Methods: Here, we define, describe and quantify the variations in the degree of closure of the vulva in 122 captive marmosets (Callithrix jacchus) from 1.2 to 42 months old and include colony analysis.
Results: There was a negative correlation between the degree of labial fusion and animal age after prepubertal period (P < 0.05). CFL females had higher number CFL relatives (4.3 ± 0.6 vs 2.4 ± 0.5 for non-CFL, P < 0.05) and more external ancestors compared to non-CFL (P < 0.05).
Conclusions: Our results therefore suggest that CFL phenotype is most likely associated with epigenetic effects induced by the captive environment and colony management strategy of extensive crossing of family lines to promote heterozygosity.
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http://dx.doi.org/10.1111/jmp.12387 | DOI Listing |
Saudi Med J
January 2025
From the Department of Surgery (Ayed), from Department of Urology (Alwadai), King Abdullah Hospital, Ministry of Health, Bisha, Kingdom of Saudi Arabia, from the Department of Anatomy (Rezigalla), College of Medicine, University of Bisha.
The horseshoe kidney (HSK) is a common renal abnormality mostly asymptomatic. This may be linked to chromosomal and organ anomalies. A 27-year-old male patient presented with mild recurrent lower abdominal pain associated with dysuria.
View Article and Find Full Text PDFInt J Surg Case Rep
December 2024
Pediatric Ophthalmic Pathology Department, SI "The Filatov Institute of Eye Diseases and Tissue Therapy of the NAMS of Ukraine", 49/51 Frantsuzkyi Bulvar, Odesa 65015, Ukraine.
Introduction: Idiopathic congenital acorea is extremely rare. There are several techniques for preserving the clear lens during pupil formation.
Case Presentation: The complete pupil absence caused acute glaucoma attack 2 weeks after birth, which was controlled in a 1-month-old child by peripheral iridectomy and disconnecting iris-corneal synechias.
Radiol Case Rep
February 2025
Department of Interventional Radiology, Massachusetts General Hospital, 55 Fruit Street, GRB 298, Boston, MA, 02114, USA.
Renal fusion anomalies are rare congenital malformations that comprise horseshoe kidney and crossed fused ectopia. Renal tumors arising from these fusion anomalies are anatomically complex, and surgical management can be technically challenging because of altered renal anatomy. Percutaneous CT-guided ablation can overcome some of these anatomical constraints, and microwave ablation has the additional benefit of shorter treatment time and reduced sensitivity to heat sink effects compared to other ablative modalities.
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2024
Department of Endocrinology and Inborn Metabolic Diseases, Fujian Children's Hospital (Fujian Branch of Shanghai Children's Medical Center), College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian 350000, China.
Objective: To assess the diagnostic efficiency of long-read sequencing (LRS) for the determination of CYP21A1P/CYP21A2 and TNXA/TNXB fusion genotypes among children with 21-hydroxylase deficiency (21-OHD) and explore their clinical characteristics.
Methods: LRS sequencing was carried out on 30 children diagnosed with 21-OHD at the Department of Endocrinology, Fujian Children's Hospital between November 2022 and September 2023 by clinical symptoms or conventional Sanger sequencing combined with multiple ligation-dependent probe amplification (MLPA). The results of the two methods were compared.
Cureus
November 2024
Urology, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.
Congenital anomalies are not regularly seen in day-to-day practice. Crossed fused renal anomalies are even rarer. A 50-year-old female patient presented with right-sided pain in the abdomen with intermittent episodes of burning micturition.
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