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.

Incidence, outcome, and proposed management of isolated abscesses complicating acute left-sided colonic diverticulitis. A prospective study of 140 patients.

In a prospective evaluation of 140 consecutive patients with acute left-sided colonic diverticulitis demonstrated by computerized tomography (CT) in all cases, 22 (16 percent) were found to have an associated abscess without peritonitis. Thirteen of these 22 required surgery (seven during the first stay and six from 2 to 11 months after the acute episode; median, three months). Nine patients were treated conservatively, eight of whom are now totally asymptomatic 24 months after the initial attack (range, 10-47 months).

Prognostic factors from computed tomography in acute left colonic diverticulitis.

This prospective study examined factors which may predict a poor outcome (complications and recurrence) after a first attack of diverticulitis which has been successfully managed conservatively. Twenty-four of 107 patients who entered the study had a poor outcome: persistent diverticulitis (nine cases), recurrence (seven cases), colonic stenosis (six cases), residual parasigmoid abscess (one case) and colovesical fistula (one case). Eight of the 18 men aged 50 years or less had a poor outcome compared with 16 of the remaining 89 patients (P = 0.

[Echography of the musculo-tendinous system].

Ultrasonography is the preferred diagnostic tool for evaluation of musculo-tendinous pathology, especially for the diagnosis of long-tendon diseases (rotary cuff, Achille's and patellar tendon.). Pathology due to injury of the musculo-tendinous system benefits as well of sonography, for it allows a more accurate diagnosis and treatment decision.

Jumper's knee and ultrasonography.

Twenty-five patients, aged between 15 and 45 years old, who were athletically active, presented with jumper's knee (patellar tendinitis). By use of ultrasonographic examination, new and precise information was obtained that benefited the diagnosis, choice of treatment, and monitoring of the evolution of jumper's knee in our patients. In 18 of the 25 patients, only 1 knee was affected; in 7 of the patients, both knees were affected, thus making a total of 32 painful tendons.

Tomographic imaging of the human thyroid using 124I.

After receiving between 100 and 300 mu Ci of the positron-emitting radioisotope 124I (half-life, 4.2 days), 64 patients with a variety of thyroid disorders were imaged with a high resolution positron camera. A 3-dimensional image of the distribution of radioiodine uptake within the thyroid was obtained from a single 10- to 15-min scan.

[The role of ultrasonography in the diagnosis of diffuse liver disease].

131 patients thought to have diffuse liver disease underwent ultrasonography and percutaneous liver biopsy. The ultrasonographic criteria examined were hepatic echogenicity compared to that of the renal cortex, homogeneity of hepatic parenchyma, and regularity of hepatic outline. On the basis of histologic examination of liver biopsies, several groups of pathologic lesions (not diagnostic entities) were established.

Contribution of CT in thoracic bony lesions.

Fourteen patients with bony lesions of the thoracic wall, seven benign and seven malignant, were evaluated. In lesions with an aggressive appearance on plain films, computed tomography proved to be very accurate for mapping their extent, and for evaluating adjacent organ involvement. For non-aggressive bony lesions of the chest wall, plain films are sufficient for determining the nature of the lesion.