Results 101 to 110 of about 46,625 (229)

Genotype–Phenotype Correlations, Treatment, and Prognosis of Children With Early‐Onset (Neonatal) Marfan Syndrome

Clinical Genetics, Volume 108, Issue 2, Page 134-145, August 2025.
Early‐onset Marfan syndrome (eoMFS) is a rare disorder with atrioventricular valve insufficiency being the most severe symptom. We propose to regard eoMFS as a spectrum, ranging from a severe disorder life‐threatening already before or immediately after birth, to a disorder with a better survival rate, creating a window for atrioventricular valve ...
Eva C. van der Leest, Annelies E. van der Hulst, Gerard Pals, Lidiia Zhytnik, Lillian Lai, Caroline Jacquemart, Lindsay Mills, Michiel Houben, Petr Jira, Bert L. Lunshof, Jessica Warnink‐Kavelaars, Vivian de Waard, Leonie A. Menke   +12 more
wiley   +1 more source

IPSILATERAL INGUINAL HERNIA IN TODDLERS: IS IT NECESSARY TO EXPLORE OTHER SIDE?

Journal of Research in Medical Sciences, 2001
Introduction: Inguinal hernia is one of the most common disease in pediatric surgery. Operation is the only definite treatment for it, yet. Bilateral inguinal exploration is recommended by some authors due to high incidence of bilateral inguinal hernia ...
H.A DAVARI, B Surgical Department, School of Medicine, Isfahan University of Medical Sciences and Health   +1 more
doaj  

AN OPERATION FOR INGUINAL HERNIA

Annals of Surgery, 1905
n ...
openaire   +4 more sources

CDK13‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management

Clinical Genetics, Volume 108, Issue 2, Page 146-155, August 2025.
This report described 27 novel subject with CDK13‐related disorders. Collecting the clinical and radiological data, we better define the phenotypic spectrum of this condition and we suggest a comprehensive clinical management. ABSTRACT In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in ...
Gianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, Manuela Napoli, Rosangela Artuso, Annarita Giliberti, Sara Bargiacchi, Giorgia Mancano, Giovanna Traficante, Mafalda Mucciolo, Francesca Clementina Radio, Viviana Cordeddu, Cecilia Mancini, Irene Bottillo, Federica Anna Pirro, Maria Teresa Bonati, Cord‐Christian Becker, Diana Carli, Alessandro Mussa, Maria Isis Atallah Gonzalez, Inge Lore Ruiz‐Arana, Camille Kumps, Isabelle Maystadt, Stephanie Moortgat, Alp Peker, Maria Piccione, Paola Grammatico, Nino Rostomashvili, Jonathan Lévy, Marcello Scala, Valeria Capra, Annalaura Torella, Clare van Eyk, Bertrand Isidor, Benjamin Cogne, Siddharth Srivastava, Aisling Quinlan, Alessandro Vaisfeld, Laura Licchetta, Daniele Frattini, Claudio Graziano, Giulia Severi, Isabelle Bacchi, Luca Soliani, Elliott H. Sherr, Emanuela Argilli, Himanshu Goel, Chiara De Luca, Silvia Leonardi, Francesco Brancati, Flavio Faletra, Catia Mio, Silvia Braibanti, Giancarlo Gargano, Carlo Fusco, Antonio Novelli, Marco Tartaglia, Livia Garavelli   +57 more
wiley   +1 more source

Nationwide survey to evaluate medical utilization by patients with inguinal hernia and the risk of developing varicocele in Taiwan

Patient Preference and Adherence, 2014
Wen-Liang Liu1,* Yu-An Chen,2 Yu-Wei Lai,3,4,* Thomas Y Hsueh,3,4 Shiou-Sheng Chen,3,4 Allen W Chiu41Taipei Databank for Public Health Analysis, Institute of Clinical Research and Teaching, Taipei City Hospital, 2Institute of Preventive Medicine ...
Liu WL, Chen YA, Lai YW, Hsueh TY, Chen SS, Chiu AW   +5 more
doaj  

THE RADICAL CURE OF FEMORAL AND INGUINAL HERNIA. [PDF]

, 1893
C. B. Lockwood
openalex   +1 more source

INGUINAL HERNIA OF THE CÆCUM

Annals of Surgery, 1909
n ...
openaire   +3 more sources

PIK3R1 mutations in individuals with insulin resistance or growth retardation: Case series and in silico functional analysis

Journal of Diabetes Investigation, Volume 16, Issue 8, Page 1526-1534, August 2025.
We present a report on SHORT syndrome caused by PIK3R1 mutations, including findings from in silico analysis. Our results demonstrate that these mutations impair the ability of p85α to interact with phosphopeptides. ABSTRACT Aims/Introduction Phosphatidylinositol 3‐kinase (PI3K) plays a key role in insulin signaling, and mutations in PIK3R1, which ...
Tomofumi Takayoshi, Yushi Hirota, Aki Sugano, Kenji Sugawara, Takehito Takeuchi, Mika Ohta, Kai Yoshimura, Seiji Nishikage, Akane Yamamoto, Yu Mimura, Shinji Higuchi, Jun Mori, Rie Kawakita, Tohru Yorifuji, Yutaka Takaoka, Wataru Ogawa   +15 more
wiley   +1 more source

The Bradsham Lecture ON THE ASSOCIATION OF INGUINAL HERNIA WITH THE DESCENT OF THE TESTIS. [PDF]

, 1900
John Langton
openalex   +1 more source

A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes

Journal of Diabetes Investigation, Volume 16, Issue 8, Page 1561-1565, August 2025.
We report a case of SHORT syndrome caused by a novel PIK3R1 mutation. The diagnosis of SHORT syndrome was made based on typical clinical features suggestive of the syndrome. ABSTRACT A 33‐year‐old man presented with short stature, thin build, hearing impairment, Rieger anomaly, and a history of inguinal hernia.
Kumiko Tajima, Yushi Hirota, Tomofumi Takayoshi, Wataru Ogawa   +3 more
wiley   +1 more source