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CRKL Gene Deletion in Familial Zinner (OSVIRA) and OHVIRA Syndromes.
Pediatrics
January 2025
Department of Paediatric Surgery & Urology, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.
We present the first description of a family in which 2 siblings show alternative expression of CRKL gene deletion as the phenotypes of Zinner (OSVIRA, obstructed seminal vesicle and ipsilateral renal agenesis) and OHVIRA (obstructed hemivagina with an ipsilateral renal anomaly) syndromes. The male infant with Zinner syndrome and his sister aged 5 years with OHVIRA syndrome both have a paternally inherited 703-kb deletion at chromosome 22q11.21 that includes CRKL.
View Article and Find Full Text PDFAn Infant With Variant: A Novel Etiology of 46,XY DSD and Literature Review.
JCEM Case Rep
January 2025
Department of Pediatrics, Division of Pediatric Endocrinology, Yale School of Medicine, New Haven, CT 06510, USA.
46,XY sex reversal 11 (SRXY11) is a rare and recently identified form of 46,XY difference in sexual development (DSD), caused by variants in the DEAH-Box Helicase 37 gene (). is crucial for ribosome biogenesis, but its specific role in gonadal development remains unclear. The genital phenotype varies widely, ranging from typical female to typical male.
View Article and Find Full Text PDFReduced-port laparoscopic right colonic resection with D3 lymph node dissection and transvaginal specimen extraction (NOSES VIIIa) for right colon cancer: clinical features.
Tech Coloproctol
December 2024
Department of Faculty Surgery No. 2, I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia.
Background: Reduced-port laparoscopic surgery (RPLS) uses the minimum possible number of ports or small-sized ports in laparoscopic surgery. The combination of RPLS and natural orifice specimen extraction (NOSE) minimizes the procedural damage.
Methods: A total of 17 patients diagnosed with right colon cancer were included: 5 patients in the RPLS + NOSE group and 12 patients in the conventional laparoscopic surgery (CL) + mini-laparotomy (ML) group.
Seroprevalence and risk factors of brucellosis in pastoralists and their livestock in Central Equatoria State, South Sudan.
PLoS Negl Trop Dis
December 2024
Department of Veterinary Anatomy and Pathology, College of Veterinary Medicine and Biomedical Sciences, Sokoine University of Agriculture, Morogoro, Tanzania.
Background: Brucellosis poses serious public health implications and substantial economic losses in pastoral rural settings in South Sudan. In humans, brucellosis is almost always originating from animals. Current literature provides scant data regarding the seroprevalence of brucellosis in South Sudan.
View Article and Find Full Text PDFMaternal group B decreases infant length and alters the early-life microbiome: a prospective cohort study.
Ann Med
December 2025
Department of Laboratory Medicine, Microbiome Medicine Center, Zhujiang Hospital, Southern Medical University, Guangzhou, Guangdong, China.
Background: Maternal colonization with Group B Streptococcus (GBS) disrupts the vaginal microbiota, potentially affecting infant microbiota assembly and growth. While the gut microbiota's importance in infant growth is recognized, the specific effects of maternal GBS on growth remain unclear. This study aimed to explore the effects of maternal vaginal GBS during pregnancy on early infant growth, microbiome, and metabolomics.
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