Results 31 to 40 of about 5,596,228 (313)
Orphanet Journal of Rare Diseases, 2020 Background People with Prader-Willi Syndrome (PWS) experience great difficulties in social adaptation that could be explained by disturbances in emotional competencies.
Nawelle Famelart +6 more
doaj +1 more source
Axonal degeneration in association with carpal tunnel syndrome [PDF]
Arquivos de Neuro-Psiquiatria, 2003 Median nerve entrapment in the palm to wrist segment is known as carpal tunnel syndrome (CTS). Electromyography is the best evaluation test to confirm the disease, as it shows a median reduced conduction velocity and/or conduction block; however, the ...
Marcelo Ribeiro Caetano
doaj +1 more source
Sweet syndrome with pulmonary involvement in a patient with myelodysplastic syndrome [PDF]
, 2020 We report a patient with Sweet syndrome involving the pulmonary system in the context of myelodysplastic syndrome. Although Sweet syndrome may involve a variety of organ systems, the pulmonary system is rarely affected and can result in poor clinical ...
Bordelon, Jenna +7 more
core
International guidelines for the management and treatment of Morquio A syndrome. [PDF]
, 2014 Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired ...
Berger, Kenneth I +8 more
core +2 more sources
Microbiology SpectrumPre-diabetes (PD) represents a critical stage in the progression toward type 2 diabetes, with significant alterations observed in the human microbial community among pre-diabetic individuals in observational studies.
Yanmin Liu +15 more
doaj +1 more source
Hughes syndrome antiphospholipid syndrome
Hamdan Medical Journal, 2008 An increasingly important link between aPL antibodies and a clinical syndrome is becoming recognized worldwide. This syndrome, known as the antiphospholipid syndrome (APS) or Hughes syndrome, is a prothrombotic disorder leading to both arterial and venous thrombosis and, in pregnancy, recurrent abortion and pregnancy loss (Figure 13.1).
openaire +2 more sources
Nature Reviews Disease Primers, 2016 Sjögren syndrome (SjS) is a systemic autoimmune disease that primarily affects the exocrine glands (mainly the salivary and lacrimal glands) and results in the severe dryness of mucosal surfaces, principally in the mouth and eyes. This disease predominantly affects middle-aged women, but can also be observed in children, men and the elderly.
Brito Zerón, Pilar +9 more
openaire +6 more sources
A rare cause of recurrent spontaneous pneumothorax: Birt-hogg-dube syndrome [PDF]
, 2018 Birt-Hogg-Dube (BHD) syndrome is an unusual disorder characterized by the triad of cutaneous lesions, renal tumors and lung cysts. In cases with BHD syndrome, the frequency of recurrent pneumothorax is increased due to presence of multiple lung cysts. It
Demirci, M. +3 more
core +1 more source
Vogt-Koyanagi-Harada Syndrome in Two Patients with Immunoglobulin A Nephropathy [PDF]
, 2007 We describe herein 2 patients who developed Vogt-Koyanagi-Harada syndrome in the course of renal biopsy-proven immunoglobulin A (IgA) nephropathy. A 61-year-old man with an 11-year history of IgA nephropathy and a 16-year history of thyroiditis, and a 56-
Masuda, Ikuya +5 more
core +1 more source
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11 [PDF]
, 2016 Variants in NDUFB11, which encodes a structural component of complex I of the mitochondrial respiratory chain (MRC), were recently independently reported to cause histiocytoid cardiomyopathy (histiocytoid CM) and microphthalmia with linear skin defects ...
Ashworth, M +19 more
core +1 more source