Results 11 to 20 of about 134,584 (262)

Inherited platelet disorders [PDF]

Journal of Veterinary Emergency and Critical Care, 2012
AbstractObjectiveTo present the latest information on inherited platelet disorders in domestic animals.Data SourcesResearch articles and reviews spanning 40 years available on PubMed.Human Data SynthesisInformation regarding inherited platelet disorders in people is plentiful and often descriptions of human conditions have led to the identification of ...
A T, Nurden, K, Freson, U, Seligsohn
openaire   +4 more sources

Rapid airway stenosis due to ruptured occipital artery in a patient with neurofibromatosis type I

Acute Medicine & Surgery, 2023
Background Neurofibromatosis type I is rarely associated with vascular abnormalities. Here, we report a case of rapid airway stenosis caused by a ruptured occipital artery that was treated with surgical airway management.
Hirotaka Ando, Takeshi Goto, Keisuke Ito, Dai Ikebe, Shogo Tanno, Shohei Matsukubo, Hirohumi Koide, Toshikazu Abe   +7 more
doaj   +1 more source

Assessment of respiratory involvement in children with mucoplysaccharidosis using pulmonary function tests

Egyptian Journal of Medical Human Genetics, 2014
Background: Mucopolysaccharidosis (MPS) are classified into seven clinical types based on eleven known lysosomal enzyme deficiencies of glycosaminoglycan (GAG) metabolism.
Mona M. El Falaki, Marian Y. Girgis, Aliaa A. Ali, Mohamed A. Elmonem, Heba M. Ismail   +4 more
doaj   +1 more source

Curcumin–Copper Complex Nanoparticles for the Management of Triple-Negative Breast Cancer

Nanomaterials, 2018
Breast cancer is the most common cancer diagnosed among females worldwide. Although breast cancer survival has largely improved in the past 30 years, it remains highly heterogeneous in its response to treatment.
Khaled Greish, Valeria Pittalà, Sebastien Taurin, Safa Taha, Fatemah Bahman, Aanchal Mathur, Anfal Jasim, Fatima Mohammed, Ibrahim M. El-Deeb, Salim Fredericks, Fiza Rashid-Doubell   +10 more
doaj   +1 more source

A Rare Case of Epidermodysplasia Verruciformis with Non Syndromic Hearing Loss [PDF]

Journal of Clinical and Diagnostic Research
The onset of Non Syndromic Hearing Loss (NSHL) typically occurs without any other symptoms and can vary from person to person, even within the same family. Hearing loss can be unilateral or bilateral and can range from mild to profound degrees of hearing
Soham Meghe, AL Singh, Yash Kashikar, Sudhir Singh   +3 more
doaj   +1 more source

Extending inherited metabolic disorder diagnostics with biomarker interaction visualizations

Orphanet Journal of Rare Diseases, 2023
Background Inherited Metabolic Disorders (IMDs) are rare diseases where one impaired protein leads to a cascade of changes in the adjacent chemical conversions.
Denise N. Slenter, Irene M. G. M. Hemel, Chris T. Evelo, Jörgen Bierau, Egon L. Willighagen, Laura K. M. Steinbusch   +5 more
doaj   +1 more source

Inherited Hyperuricemic Disorders [PDF]

, 2004
Inherited hyperuricemic disorders fall into two major classes, metabolic overproduction of purines and renal tubular undersecretion. The aim was to explore both. Methodology was a combination of personal experience and review of relevant literature.
openaire   +3 more sources

Thrombosis in Inherited Fibrinogen Disorders [PDF]

Transfusion Medicine and Hemotherapy, 2017
Although inherited fibrinogen disorders (IFD) are primarily considered to be bleeding disorders, they are associated with a higher thrombotic complication risk than defects in other clotting factors. Managing IFD patients with thrombosis is challenging as anticoagulant treatment may exacerbate the underlying bleeding risk which can be life-threatening.
Korte, Wolfgang, Poon, Man-Chiu, Iorio, Alfonso, Makris, Michael   +3 more
openaire   +2 more sources

Diagnostic and Management Strategies of Bietti Crystalline Dystrophy: Current Perspectives

Clinical Ophthalmology, 2023
Ali Osman Saatci,1 Ferdane Ataş,2 Gökhan Ozan Çetin,3 Mustafa Kayabaşı1 1Department of Ophthalmology, Dokuz Eylul University, Izmir, Turkey; 2Department of Ophthalmology, Çerkezköy State Hospital, Tekirdağ, Turkey; 3Department
Saatci AO, Ataş F, Çetin GO, Kayabaşı M   +3 more
doaj  

Congenital disorders in the cattle population of the Czech Republic

Czech Journal of Animal Science, 2009
The aim of the paper was to analyse congenital disorders in the Czech cattle population in 1986-2001. The offspring of 474 sires - 215 Czech Simmental, 236 Holstein, and 23 beef - were diagnosed with congenital disorders which were unevenly distributed ...
J. Čítek, V. Řehout, J. Hájková
doaj   +1 more source