The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome.

Mutations in the gene encoding complement factor H (CFH) that alter the C3b/polyanions-binding site in the C-terminal region impair the capacity of factor H to protect host cells. These mutations are also strongly associated with atypical hemolytic uremic syndrome (aHUS). Although most of the aHUS-associated CFH mutations seem "unique" to an individual patient or family, the R1210C mutation has been reported in several unrelated aHUS patients from distinct geographic origins.

Ultrasound of the digital flexor system: Normal and pathological findings().

Recent improvements in ultrasound (US) software and hardware have markedly increased the role of this imaging modality in the evaluation of the musculoskeletal system. US is currently one of the main imaging tools used to diagnose and assess most tendon, muscle, and ligament disorders. Compared with magnetic resonance imaging, US is much less expensive; it has no contraindications and is also widely available.

Ultrasound of the elbow: Examination techniques and US appearance of the normal and pathologic joint.

Ultrasound studies are frequently requested for the work-up of patients with local elbow pain, which is generally caused by overuse syndromes, trauma, inflammatory diseases, or neuropathies. The technique used to examine this joint will vary to some extent depending on the precise location of the pain and other clinical findings. The aim of this article is to describe the standard technique used for elbow ultrasound, the normal anatomy of the joint, and the appearance on ultrasound of normal elbow anatomy and the alterations associated with some of the more common disorders affecting this joint.

Ultrasound of the ankle: anatomy of the tendons, bursae, and ligaments.

Ankle tendon and ligament disorders are commonly encountered in everyday orthopedic practice. Whereas tendons can be affected by traumatic, degenerative, and inflammatory conditions, ligaments are mostly involved by tears. Ultrasonography (US) has been accepted worldwide as an efficient, ready, dynamic, and noninvasive tool in assessing ankle tendons and ligaments.