Results 61 to 70 of about 68,311 (243)

MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni, Francesca Romana Lepri, Sarah Cetola, Maria Lisa Dentici, Federico Vigevano, Antonio Novelli, Nicola Specchio, Marina Trivisano, Maria Cristina Digilio   +12 more
wiley   +1 more source

A case of bilateral inguinal hernia associated with Marfan syndrome

Journal of Pediatric Surgery Case Reports, 2022
Marfan syndrome, a connective tissue disease, is associated with a high incidence and recurrence rate of inguinal hernia. We herein report a three-year-old boy with bilateral inguinal hernia associated with Marfan syndrome.
Yoshiki Yamaguchi, Masahiro Fukuhara, Tomoko Izaki   +2 more
doaj  

A role for the collagen I/III and MMP-1/-13 genes in primary inguinal hernia? [PDF]

, 2002
BACKGROUND: Abnormal collagen metabolism is thought to play an important role in the development of primary inguinal hernia. This is underlined by detection of altered collagen metabolism and structural changes of the tissue in patients with primary ...
A Ghahary, A Pans, AD Waggett, B Lehnert, DW Friedman, DW Friedman, G Morris-Stiff, HG Welgus, J Uitto, JL Huebner, JM Bellon, JM Bellon, JM Freije, M Pauschinger, M Schaffer, M Vaalamo, MA Ajabnoor, MS Liem, O Lindy, R Fleischmajer, S Menashi, S Nikolov, U Klinge, U Klinge, V Schumpelick, VM Kahari, W Henkel, WK Stadelmann   +27 more
core   +3 more sources

AMYAND'S HERNIA, AN UNKNOWN ENTITY THAT MAY CAUSE SURGEONS DIFFICULTY: OUR EXPERIENCE AND LITERATURE REVIEW [PDF]

, 2021
Amyand's hernia is an inguinal hernia, containing the appendix within the hernial sac. Claudius Amyand described the first clinical case in 1735. Despite the high incidence of inguinal canal hernia disease in the population with approximately 20 milion ...
Basile,F, Leanza,V, Marchi,D, Provenzano,D, Rinzivillo,MN, Saguto,D, Tomasello,G, Zanghì,GN, Zanghì,M   +8 more
core   +1 more source

Crossover from Reptation to Rouse dynamics in the Extended Rubinstein-Duke Model [PDF]

, 2008
The competition between reptation and Rouse Dynamics is incorporated in the Rubinstein-Duke model for polymer motion by extending it with sideways motions, which cross barriers and create or annihilate hernias. Using the Density-Matrix Renormalization-Group Method as solver of the Master Equation, the renewal time and the diffusion coefficient are ...
arxiv   +1 more source

Introducing Novel Surgical Clinical Correlations Into an Undergraduate Medical Anatomy Course

Clinical Anatomy, EarlyView.
ABSTRACT Anatomy education is a hallmark of many preclinical medical school curricula, but students are often unable to identify the clinical relevance of anatomy and its applications. Vertical curricula that integrate clinical concepts into the preclinical basic science years and vice versa have been shown to benefit student learning and increase ...
Liam McLoughlin, Theofano Zoumpou, George P. Holan, Bao‐Ngoc Nasri, Daniel B. Jones, Jeremy J. Grachan   +5 more
wiley   +1 more source

Nationwide analysis of open groin hernia repairs in Italy from 2015 to 2020 [PDF]

, 2023
Introduction: Inguinal hernia repair is one of the most commonly performed operations in general surgery. A total of 130.000 inguinal hernia repairs are performed yearly in Italy, and approximately 20 million inguinal hernias are treated worldwide ...
Balla, A, Botteri, E, Montori, G, Ortenzi, M, Podda, M, Sartori, A   +5 more
core   +2 more sources

Comparative analysis of comorbidity, surgical complications, pharmacotherapeutic needs, and rehabilitation requirements in transabdominal preperitoneal hernia repair versus conventional operative treatment—current results and benefits [PDF]

Pharmacia
Background: Laparoscopic transabdominal preperitoneal (TAPP) inguinal hernia repair is a relatively new method of inguinal hernia surgical repair that, at theory, provides a good view of the inguinal anatomy and sac contents and, as a laparoscopic ...
Konstantin Kostov, Vesselin Marinov Marinov, Stefka Аchkova Ivanova, Niya Emilova Semerdzhieva, Mariya Sevdelinova Chaneva, Ventseslava Petrova Atanasova, Petar Yordanov Atanasov, Maria Stamova Vakrilova Becheva, Valentina Bojanova Petkova   +8 more
doaj   +3 more sources

Perforated sigmoid colon adenocarcinoma within an irreducible inguinal hernia: A case report

SAGE Open Medical Case Reports, 2023
Inguinal hernia is a potentially occult common surgical condition. Its association with asymptomatic adenocarcinoma is uncommon. However, malignancy-associated perforation of the large bowel within an irreducible hernia is rare.
PG Nadun Danushka, Ravindri Jayasinghe, Kamal Dunusinghe   +2 more
doaj   +1 more source

Edoardo Bassini (1844-1924): father of modern-day hernia surgery. [PDF]

, 2013
According to Roman scripture, it was Celsus who attempted the first inguinal hernia repair in history during the first century A.D. His attempts were unsuccessful and resulted in an early recurrence of the hernia, which eventually led to the patient’s ...
Cowan, MD, Scott W., Lavu, MD, Harish, Rosato, MD, Ernest L., Tan, B.S., Wei Phin, Yeo, MD, Charles J.   +4 more
core   +1 more source