Results 181 to 190 of about 2,600,985 (388)

War Abdominal Trauma: Usefulness of Penetrating Abdominal Trauma Index, Injury Severity Score, and Number of Injured Abdominal Organs as Predictive Factors [PDF]

, 2001
N Sikić, Želimir Korać, Ivan Krajačić, Josip Žunić   +3 more
openalex   +1 more source

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier, Christie A Boswell‐Patterson, Lucas Bronicki, Krista M. Vincent, Kalin Wilk, Andrea C. Yu, Gail E. Graham, Julie Richer   +7 more
wiley   +1 more source

Gastrointestinal Issues in CHARGE Syndrome: Prevalence, Patterns, and Constipation‐Related Quality of Life

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley   +1 more source

Intra-abdominal Injuries in the Battered Baby Syndrome

, 1972
P. Gornall, Shahd Wael Ahmed, A. Jolleys, S. J. Cohen   +3 more
openalex   +1 more source

Injury to the Abdominal Aorta During Laparoscopic Surgery: An Unusual Presentation

, 2000
A. Mases, Antônio Montes, Rocio Ramos, Lourdes Trillo, Margarita M. Puig   +4 more
openalex   +2 more sources

Abdominal Injuries caused by Bicycle Handlebars [PDF]

, 2001
Ludwig Lazar Ilan Erez
openalex   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Laparotomy For Abdominal Injuries; Role of Clinical Assessment In The Evaluation Of An Injured Abdomen

, 1970
Dinesh Nath Gongal, U P Devkota
openalex   +2 more sources

Abdominal Vascular Injuries: The Trauma Surgeon's Challenge [PDF]

, 2001
Juan A. Asensio, Salvador Navarro, Walter Forno, Gustavo Roldán, Patrizio Petrone, Esteban Gambaro, Alí Salim, Vincent L. Rowe, Δημήτριος Δημητριάδης   +8 more
openalex   +1 more source

Early Enzyme Replacement Therapy Does Not Prevent the Protein Losing Enteropathy Syndrome in Neurovisceral Gaucher Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gaucher disease (GD) is a rare lysosomal storage disorder characterized by multisystemic involvement. With the advent of enzyme replacement therapy (ERT), patient survival has improved, revealing new long‐term complications. We report a case of a 4‐year‐old male with severe neurovisceral GD who developed protein‐losing enteropathy (PLE ...
Vincenza Gragnaniello, Mara Cananzi, Annachiara Cavaliere, Christian Loro, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Alberto B. Burlina   +7 more
wiley   +1 more source