Results 11 to 20 of about 3,936,779 (293)
The authors present a male 40-year-old patient with established diagnosis of Behçet's disease which had evolved to recurrent bilateral auricular polychondritis crises. MAGIC syndrome (mouth and genital ulcers with inflamed cartilage) is rare and groups together patients with this clinical picture without necessarily fulfilling the clinical criteria for
Nascimento, Ana Claudia Mendes do+3 more
+37 more sources
Hypereosinophilic syndromes [PDF]
Hypereosinophilic syndromes (HES) constitute a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia (> 1.5 x 10(9)/L for more than six consecutive months) associated with evidence of eosinophil-induced organ damage, where other causes of hypereosinophilia such as allergic, parasitic, and malignant disorders ...
Roufosse, Florence+2 more
openaire +6 more sources
Myelodysplastic syndromes with nephrotic syndrome [PDF]
It is sometimes reported that the immunological abnormalities in myelodysplastic syndromes (MDS) induce autoimmune disease (i.e., acute systemic vasculitic syndrome, chronic cutaneous vasculitis, polyneuropathy, relapsing polychondritis, and steroid-responsive pulmonary disorders).
Tadashi Maehara+10 more
openaire +3 more sources
Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness.
Peruzzo, Juliano+4 more
openaire +7 more sources
Marfan syndrome: An eyesight of syndrome
Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1).
Sarita Agarwal, Ashok Kumar
openaire +3 more sources
Heidinger syndrome - Carcinoid syndrome [PDF]
Carcinoid heart disease was first described in 1954. It develops in over 70% of carcinoid syndrome patients. Up to 20% of patients with carcinoid syndrome have pronounced carcinoid heart disease at diagnosis. Cardiac involvement is usually well tolerated by patients.
Vasil Dimitrov Velchev+4 more
openaire +1 more source
Neuroacanthocytosis Syndromes [PDF]
Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder.
Jung, H H, Danek, A, Walker, R H
openaire +4 more sources
The Brugada syndrome is a genetically determined disease caused by mutations of the cardiac sodium channel. The disease affects mainly males in their forties and causes sudden cardiac death because of polymorphic ventricular tachycardia. These patients have a structurally normal heart.
Brugada, Pedro, Brugada, J., Brugada, R.
openaire +9 more sources
Background Most randomized controlled trials (RCTs) of traditional medicine (such as traditional Chinese medicine (TCM), psychotherapy or behavioral therapy, and dietary interventions, etc.) have reported that they could not provide convincing evidence ...
Qiliang Chen+8 more
doaj +1 more source
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