Results 111 to 120 of about 1,327,945 (260)

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts [PDF]

, 2017
Acknowledgements We sincerely thank the patients and family members who participated in this study. We would also like to thank Stefan Esher, Umeå University, for help with genealogy, and Anna Westerlund for excellent technical assistance.
Ameur, Adam, Coxon, Fraser P., Dahl, Niklas, Hallmans, Göran, Helfrich, Miep H., Henning, Petra, Kellgren, Therese G., Klar, Joakim, Lerner, Ulf H., Lönnerholm, Torsten, McDermott, Emma, Rydén, Patrik, Sandström, Per-Erik, Stattin, Eva-Lena, Stecksen-Blicks, Christina, Wikström, Johan   +15 more
core   +1 more source

Heart Rate Variability in Newborns From Diabetic Mothers: Clinical Application and Significance

Annals of Noninvasive Electrocardiology, Volume 31, Issue 3, May 2026.
Risk factors for GDM contribute to a hyperglycemic intrauterine environment, which may in turn impair ANS function in the offspring. Altered ANS activity can be assessed through measures such as HRV. ABSTRACT Gestational diabetes mellitus (GDM) is one of the most common pregnancy complications, arising from inadequate insulin secretion and increased ...
Virginia Beretta, Laura Cannavò, Sebastiano Ravenda, Chiara Petrolini, Vincenzo Raitano, Sabrina Moretti, Valentina Dell'Orto, Serafina Perrone   +7 more
wiley   +1 more source

Zinner Syndrome: A Rare Case Report

Journal of Urological Surgery
Over 200 cases of seminal vesicle cysts linked to ipsilateral renal agenesis have been reported in the literature, indicating Zinner syndrome. This condition occurs when the ureteric buds fail to meet the metanephros, leading to cystic dilatation in the ...
Gaurang R. Shah, Achint Bajpai, Husain Burhanpurwala   +2 more
doaj   +1 more source

Deep Venous Thrombosis of the Leg, Associated with Agenesis of the Infrarenal Inferior Vena Cava and Hypoplastic Left Kidney (KILT Syndrome) in a 14-Year-Old Child

Case Reports in Pediatrics, 2015
Agenesis of the inferior vena cava (IVC) is a rare anomaly which can be identified as incidental finding or can be associated with iliofemoral vein thrombosis.
Sakshi Bami, Yarelis Vazquez, Valeriy Chorny, Rachelle Goldfisher, John Amodio   +4 more
doaj   +1 more source

Sirenomelia, the Mermaid syndrome: case report and a brief review of literature [PDF]

, 2009
Sirenomelia, the Mermaid Syndrome is a rare and lethal congenital anomaly with an incidence of one in 60,000 to 70,000 pregnancies. Sirenomelia is characterized by complete fusion of the lower limbs, commonly associated with renal agenesis, absent ...
Munim, Shama, Sikandar, Rozina
core   +1 more source

Long‐Term Psychosocial Outcomes in Japanese Mayer–Rokitansky–Küster–Hauser Syndrome: A Single‐Center Study

Journal of Obstetrics and Gynaecology Research, Volume 52, Issue 5, May 2026.
ABSTRACT Aim Vaginal creation enables sexual intercourse in patients with Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome. However, long‐term psychosocial outcomes, particularly in Japanese patients, remain underreported. This study aimed to explore the long‐term psychosocial outcomes associated with different choices of vaginal creation in patients ...
Asuka Okunomiya, Kaori Tsuyuki, Takuma Ohsuga, Tsutomu Ohara, Akihiro Yanai, Rin Mizuno, Koji Yamanoi, Miho Egawa, Masaki Mandai   +8 more
wiley   +1 more source

Anatomical Variations, Genitourinary Anomalies and Clinical Presentations in Obstructed Hemivagina and Ipsilateral Renal Anomaly Syndrome: Case Series

Journal of the Korean Society of Radiology
Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome is a rare Müllerian duct anomaly, commonly characterized by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis.
Hyun Jeong Kim, Eun Ji Lee, Yun-Woo Chang, Seong Sook Hong, Jiyoung Hwang, Boda Nam, Sung Hwan Bae   +6 more
doaj   +1 more source

Magnetic Resonance Imaging Evaluation of Wolffian Duct Anomalies – OHVIRA and OSVIRA

Journal of Human Reproductive Sciences
Herlyn–Werner–Wunderlich syndrome in females, also known as obstructed haemivagina and ipsilateral renal agenesis (OHVIRA), and Zinner’s syndrome, also known as OSVIRA in males, are two rare congenital syndromes affecting the urogenital tract.
Lukshay Bansal, Suryansh Arora, Akhila Prasad   +2 more
doaj   +1 more source

Term Pregnancy at the Site of Atresia Following Vaginal Canalization in a Case of Uterus Didelphys with Hemivaginal Atresia and Ipsilateral Renal Agenesis

Taiwanese Journal of Obstetrics & Gynecology, 2006
Objective: Uterus didelphys with hemivaginal atresia and ipsilateral renal agenesis is a rare syndrome of müllerian anomalies. Term pregnancy at the site of atresia is even rarer.
Fang-Ping Chen, Koon-Kwan Ng
doaj   +1 more source

Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24 [PDF]

, 2017
Background. Congenital anomalies of the kidney and urinary tract (CAKUT) account for the majority of end-stage renal disease in children (50%). Previous studies have mapped autosomal dominant loci for CAKUT.
Ashraf, Shazia, Chaib, Hassan, Hacker, Hans W., Hildebrandt, Friedhelm, Hoefele, Julia, Hoskins, Bethan E., Nuernberg, Gudrun, Nuernberg, Peter, Otto, Edgar A., Pasch, Andreas, Saisawat, Pawaree, Trefz, Friedrich   +11 more
core