Results 41 to 50 of about 60,306 (194)

Comorbidities Associated with Large Abdominal Aortic Aneurysms [PDF]

, 2019
BACKGROUND: Abdominal aortic aneurysm has become increasingly important owing to demographic changes. Some other diseases, for example, cholecystolithiasis, chronic obstructive pulmonary disease, and hernias, seem to co-occur with abdominal aortic ...
Althoff, Christian E., Greiner, Andreas, Hinterseher, Irene, Kuivaniemi, Helena, Miszczuk, Milena, Müller, Verena, Stroux, Andrea   +6 more
core   +1 more source

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips, Hagar Mor‐Shaked, Oded Shamriz, Raz Somech, Rawan Abu Omar, Smadar Eventov‐Friedman, Noa Ofek‐Shlomai, Dvorah Zaguer, Tamar Harel   +8 more
wiley   +1 more source

Study of feasibility of laparoscopic inguinal hernia surgery in taiping hospital [PDF]

, 2010
The history of inguinal hernia repair (IHR) has gone through many stages of development from the ancient era until today. Inguinal hernia repair is one of the commonest surgical procedure worldwide, irrespective of socioeconomic status or country. Today,
Abu Hassan, Hasslinda
core  

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Safety, Tolerability, and Pharmacokinetics of the Long‐Acting SARS‐CoV‐2–Neutralizing Monoclonal Antibody Combination AZD7442 (Tixagevimab/Cilgavimab) in Healthy Chinese Adults

Clinical Pharmacology in Drug Development, EarlyView.
Abstract AZD7442, a combination of extended half‐life monoclonal antibodies tixagevimab and cilgavimab, was shown to neutralize previously circulating SARS‐CoV‐2 variants. This study evaluated safety, tolerability, pharmacokinetics, and pharmacodynamics of AZD7442 in healthy Chinese adults. In this randomized, placebo‐controlled, Phase 1 study, AZD7442
Nanyang Li, Jing Zhang, Wenhong Zhang, Zhongyuan Xu, Xiangcao Yao, Anqi He, Shuyuan Liu, Xiaoyun Ge, Jinxi Liu, Yunfei Li, Cecil Chi‐Keung Chen, Huixia Zhang   +11 more
wiley   +1 more source

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

THE VALUE OF DIAGNOSTIC ULTRASOUND FOR DETECTING OCCULT INGUINAL HERNIA IN PATIENTS WITH GROIN PAIN [PDF]

, 2014
Aims: chronic groin pain caused by an occult hernia can be a difficult clinical diagnosis and may require additional investiga- tive modalities. The aim of this study was to demonstrate the accuracy of ultrasound in diagnosing occult hernia in patients ...
Palumbo, V., Tomasello, G., Bruno, A., Damiano, G., Spinelli, G., Sinagra, E., Cocchiara, G., Buscemi, S., Sammartano, A., Bonafede, E., Ficarella, S., De Luca, S., Di Carlo, G., Di Blasi, M., Sorrentino, F., Aiello, C., Fazzotta, S., Buscemi, G., LO MONTE, A.   +18 more
core   +3 more sources

Perspective of the Pharmaceuticals and Medical Devices Agency on Drug Development for Childhood Myopia

Clinical Pharmacology &Therapeutics, EarlyView.
Pathologic myopia represents a global public health concern, with increasing prevalence and vision loss risk. Myopia typically develops in childhood and progresses more rapidly with earlier onset. Clinical trials exploring treatments for decelerating myopia progression are underway.
Mitsuru Arima, Motomasa Atsumi, Kumiko Takeuchi, Takumi Aoki, Emi Inagaki, Yosuke Kobayashi, Takuya Kageyama, Kazuki Izumi, Atsushi Yoshimura, Wataru Asakura   +9 more
wiley   +1 more source

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