Results 31 to 40 of about 43,426 (299)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source

Ecchymosis on the penis, scrotum and pubis

The Pan African Medical Journal, 2017
A 52-year-old male patient with a mechanical prosthetic valve, in use of the combination of aspirin and warfarin, presented to the emergency department after 12 hours of a blunt injury of erect penis during sexual intercourse.
Glauber Voltan, Fred Bernardes Filho
doaj   +1 more source

Intérêt du lambeau fasciocutané médial de la cuisse dans la gangrène de Fournier

African Journal of Urology, 2016
Introduction: Les auteurs proposent une mise au point sur la prise en charge des pertes de substances périnéoscrotales consécutives à la gangrène de Fournier et soulignent l’intérêt du lambeau fasciocutané médial de cuisse.
M.A. Ennouhi, M. Kajout, A. Moussaoui
doaj   +1 more source

Fistules scrotales révélant un adénocarcinome mucineux du scrotum: à propos d'un cas

The Pan African Medical Journal, 2017
Les fistules scrotales sont rares, et souvent secondaires à des lésions de tuberculose. Les adénocarcinomes mucineux sont des tumeurs qui renferment au moins 50% de mucus extracellulaire, et siègent préférentiellement sur le recto sigmoïde, la ...
Abdelilah El Alaoui, Hicham El Boté, Oussama Ziouani, Oussman Dembele, Hachem El Sayegh, Ali Iken, Lounis Benslimane, Yassine Nouini   +7 more
doaj   +1 more source

Congenital giant fibroepithelial polyp of the scrotum in an infant: the first case report from China

Frontiers in Pediatrics, 2023
Giant fibroepithelial polyp (FP) of the scrotum in infants is a rare disease. We reported the first case of FP in China. The child was only 9 months and 12 days old and was admitted to the hospital due to rapid growth and rupture of the scrotal mass. The
Chenghao Zhanghuang, Chenghao Zhanghuang, Yu Hang, Fengming Ji, Na Long, Zhigang Yao, Li Li, Zhen Yang, Haoyu Tang, Kun Zhang, Chengchuang Wu, Yucheng Xie, Bing Yan, Bing Yan   +13 more
doaj   +1 more source

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

A case of lymphatic malformation/lymphangioma of the scrotum

Acta Radiologica Open, 2012
Lymphatic malformation/lymphangioma of the scrotum is rare. It is caused by lymphatic abnormalities and the most common sites are the neck and axilla. The scrotum is one of the most uncommon sites.
Gensuke Akaike, Taiki Nozaki, Akari Makidono, Yukihisa Saida, Takeshi Hirabayashi, Koyu Suzuki   +5 more
doaj   +1 more source

Leiomyoma of scrotum

Indian Journal of Pathology and Microbiology, 2008
Leiomyoma is a benign tumor of smooth muscles. Leiomyoma originating from the scrotum is a rare entity. We report here a case of 50-year-old male who presented with a 4-cm lump in the left side of scrotum. Clinically, it was provisionally diagnosed as sebaceous cyst and was excised. The histopathology showed findings consistent with leiomyoma.
R K, Sherwani, K, Rahman, K, Akhtar, S, Zaheer, M J, Hassan, A, Haider   +5 more
openaire   +2 more sources

A rare case of perineal neuralgia treated with ultrasound‐guided nerve block combined with water separation

Ibrain, Volume 11, Issue 1, Page 106-111, Spring 2025.
A middle‐aged man presented with a right indirect inguinal hernia in November 2020 and underwent laparoscopic high ligation of the right hernial sac. Intermittent acupuncture‐like pain in the skin of the right scrotum and medial thigh occurred 1 month after surgery and lasted for 6 months. Under ultrasound guidance, ilioinguinal nerve and genitofemoral
Yong Wang, Min Wang, Rui Jiang, Zhao‐Qiong Zhu, Guang‐Cai Li   +4 more
wiley   +1 more source