1. Pulmonary arterial hypertension 1.1 Idiopathic PAH 1.2 Heritable 1.2.1. BMPR2 1.2.2. ALK1, endoglin, SMAD9, CAV1, KCNK3 1.2.3 Unknown 1.3 Drug- and toxin-induced 1.4 Associated with 1.4.1. Connective tissue diseases…
1. Presence of liver disease (a) Cirrhotic or non-cirrhotic portal hypertension 2. Intrapulmonary vascular dilatations (a) Positive transthoracic contrast/bubble echocardiogram (b) 99mTechnetium lung/brain perfusion scan 3. Hypoxemia (a) Seated room…
1. Age at disease onset <40 years Development of symptoms or findings related to Takayasu arteritis at age <40 years 2. Claudication of extremities Development and worsening of fatigue and…
Type Fibril protein precursor Clinical syndrome AA Serum amyloid A protein Reactive systemic amyloidosis associated with chronic inflammatory diseases AL Monoclonal immunoglobulin light chains Systemic amyloidosis associated with monoclonal plasma…
Fig. 12.1 (a) Case 1: Chest x-ray shows that the left diaphragm is obscured by a pleural effusion. The abdomen is protected by a lead shield. (b–d) Case 1: CT…
Increasing awareness of rare diseases throughout society Defining disease mechanisms and targets – encourage basic research Improving case definition Improving methods of diagnosis and screening Standardizing methods for sample manipulation…
Fig. 3.1. The “bench–desk–bench” loop of SysBio. A typical SysBio workflow. Based on an observation, such as a difference in yeast colony size and phenotype under two different conditions, a…
Fig. 13.1. Angioinvasive aspergillosis in a 35-year-old man with acute lymphatic leukemia. CT scan shows bilateral peribronchovascular nodular lung lesions with surrounding halo of ground-glass attenuation representing adjacent hemorrhage Fig….
Fig. 4.1. Fungal PAMPs. The fungal cell wall is rich in carbohydrates such as α-mannan (mannosylated proteins), β-glucan, and chitin. The cell wall is a dynamic structure capable of considerable…
Order Family Genus Species Mucorales Syncephalastraceae Syncephalastrum Syncephalastrum racemosum Saksenaeaceae Apophysomyces Apophysomyces elegans complex Apophysomyces trapeziformis Saksenaea Saksenaea vasiformis complexa Saksenaea erythrospora b Cunninghamellaceae Cunninghamella Cunninghamella bertholletiae Mucoraceae Absidia Absidia…
