Results 61 to 70 of about 17,278 (220)

The Audiologic and Otolaryngologic Phenotype in WHIM Syndrome

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis syndrome) is an ultra‐rare primary immunodeficiency disease caused by autosomal dominant hyperfunctional mutations in the chemokine receptor CXCR4. Otolaryngologists are frequently consulted to evaluate WHIM patients because of recurrent acute ear and sinus ...
Christopher K. Zalewski, H. Jeffrey Kim, Carmen C. Brewer, Sophia Martinez, Caroline Rieger, Elena Cho, David H. McDermott, Philip M. Murphy   +7 more
wiley   +1 more source

Renal tubular dysgenesis with hypocalvaria and ileocecal valve agenesis: an autopsy report

Autopsy and Case Reports, 2012
Renal tubular dysgenesis (RTD) is a rare, lethal, autosomal recessive disorder characterized by non-differentiation of the renal proximal convoluted tubules, resulting in oligohydramnios.
Ariel Barreto Nogueira, Regina Schultz, Adolfo Wenjaw Liao, Rossana Pulcineli Vieira Fancisco, Marcelo Zugaib   +4 more
doaj  

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Abdominal and Pelvic Anomalies

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective(s) This study aims to document the abdominal and pelvic anomalies that can be demonstrated using post mortem Micro‐CT, independent of whether the anomaly contributed to the main diagnosis or cause of death. Methods We retrospectively analyzed 1200 whole body post‐mortem fetal Micro‐CT scans in an unselected, consecutive cohort ...
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Associated congenital genitourinary and intestinal anomalies: A case report

Urology Case Reports
The female urogenital tract originates in the intermediate mesoderm, with the Müllerian ducts being critical for uterine, vaginal, and tubal formation.
Noemi Aparecida Betini Venturim, Laura de Paiva Rodrigues da Silva, Bárbara Eugênio Custódio Silva, Lyvia do Prado Pacheco, Lara Fachetti de Souza, Alexander Hatsumura Casini, Antônio Chambô Filho   +6 more
doaj   +1 more source

HucMSC‐Derived Exosomes Preserve Mafb‐Dependent Tubular Epithelial Identity and Suppress Dedifferentiation in Obstructive Nephropathy

Pediatric Discovery, EarlyView.
Unilateral ureteral obstruction (UUO) and genetic deletion of Mafb lead to tubular epithelial dedifferentiation, characterized by decreased E‐cadherin and increased α‐SMA and vimentin expression. Intravenous administration of human umbilical cord mesenchymal stem cell‐derived exosomes (HucMSC‐Exos) partially restores Mafb expression in UUO kidneys ...
Zhuocheng Shi, Chenxi Jia, Meiling Chen, Yihang Yu, Deying Zhang, Guanghui Wei   +5 more
wiley   +1 more source

Human Umbilical Cord Mesenchymal Stem Cell–Derived Exosomes Attenuate Renal Fibrosis by Suppressing Fibroblast Activation via the INHBA/PI3K/AKT Pathway

Pediatric Discovery, EarlyView.
MSC‐Exo derived from human umbilical cord (HucMSC‐Exo) downregulates INHBA expression, consequently modulating the PI3K/AKT signaling cascade. This regulation attenuates renal fibroblast activation and extracellular matrix deposition, thereby exerting a renoprotective effect against fibrosis.
Meiling Chen, Chenxi Jia, Zhuocheng Shi, Bianan Zhu, Yihang Yu, Xing Liu, Feng Liu, Jianwei Chen, Tao Xu, Yuanyuan Zhang, Deying Zhang, Guanghui Wei   +11 more
wiley   +1 more source

MicroRNA‐130a‐3p Targets the Androgen‐Related Transcription Factor MAFB: Effects on Proliferation, Migration, Apoptosis, and Cell Cycle in Hypospadias

Pediatric Discovery, EarlyView.
MicroRNA‐130a‐3p targets and inhibits MAFB expression, leading to the development of hypospadimas. MicroRNA‐130a‐3p inhibits the expression of MAFB, disrupts the normal processes of cell proliferation, migration, cell apoptosis, and cycle progression, and ultimately leads to the development of hypospadias.
Jiaxin Zhou, Yixuan Wang, Zhicheng Zhang, Qiang Zhang, Zhenmin Liu, Hongsong Chen, Xingguo Luo, Chunlan Long, Lianju Shen, Xing Liu, Guanghui Wei   +10 more
wiley   +1 more source

Testículos supernumerarios: anomalía infrecuente del sistema genital. Reporte de caso Polyorchidism. Infrequent Anomaly of the Genital System. Report of a Case

Revista Médica Electrónica, 2011
Introducción: El testículo supernumerario es una anomalía congénita urológica poco frecuente, que es definido como la presencia de más de dos testículos, ya sea de localización intra o extraescrotal. Los testículos supernumerarios son una rara anomalía a
Niurka García Sosa, Francisco J Fong Aldama, Rodolfo Santana Valera, Ernesto Toledo Martínez   +3 more
doaj  

Head‐to‐head prospective comparison of diagnostic accuracy of preoperative ultrasonography and MRI in patients undergoing surgery for deep endometriosis using #Enzian classification

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective To perform a head‐to‐head comparison of the diagnostic performance of ultrasonography (US) vs magnetic resonance imaging (MRI) for the preoperative detection of endometriosis using the #Enzian classification system. Methods This was a prospective observational study of postmenarchal premenopausal women who underwent laparoscopy ...
B. Pete, K. Turtóczki, A. Bokor, I. Kalina, I. Madár, L. Lipták, J. Rigó Jr, N. Ács, G. Szabó   +8 more
wiley   +1 more source

The Role of Vaginal Oestrogen Therapy in Postmenopausal Women With Pelvic Organ Prolapse: Does It Have Any Impact on Perioperative Outcomes? A Systematic Review of Randomised Controlled Trials

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Background Pelvic organ prolapse (POP) affects up to 50% of postmenopausal women, negatively impacting sexual function and quality of life. While surgery remains the primary treatment, increasing attention has been given to perioperative vaginal oestrogen therapy and its potential impact on surgical outcomes.
Gilda Sicilia, Salvatore Giovanni Vitale, Maurizio Nicola D'Alterio, Stefania Saponara, Francesco Scicchitano, Anna Maria Fulghesu, Rossella E. Nappi, Stefano Angioni   +7 more
wiley   +1 more source