Mucopolysaccharidosis type I Hurler (MPSIH) is characterized by severe and progressive skeletal dysplasia that is not fully addressed by allogeneic hematopoietic stem cell transplantation (HSCT). ...Autologous hematopoietic stem progenitor cell-gene therapy (HSPC-GT) provides superior metabolic correction in patients with MPSIH compared with HSCT; however, its ability to affect skeletal manifestations is unknown. Eight patients with MPSIH (mean age at treatment: 1.9 years) received lentiviral-based HSPC-GT in a phase 1/2 clinical trial (NCT03488394). Clinical (growth, measures of kyphosis and genu velgum), functional (motor function, joint range of motion), and radiological acetabular index (AI), migration percentage (MP) in hip x-rays and MRIs and spine MRI score parameters of skeletal dysplasia were evaluated at baseline and multiple time points up to 4 years after treatment. Specific skeletal measures were retrospectively compared with an external cohort of HSCT-treated patients. At a median follow-up of 3.78 years after HSPC-GT, all patients treated with HSPC-GT exhibited longitudinal growth within WHO reference ranges and a median height gain greater than that observed in patients treated with HSCT after 3-year follow-up. Patients receiving HSPC-GT experienced complete and earlier normalization of joint mobility compared with patients treated with HSCT. Mean AI and MP showed progressive decreases after HSPC-GT, suggesting a reduction in acetabular dysplasia. Typical spine alterations measured through a spine MRI score stabilized after HSPC-GT. Clinical, functional, and radiological measures suggested an early beneficial effect of HSPC-GT on MPSIH-typical skeletal features. Longer follow-up is needed to draw definitive conclusions on HSPC-GT's impact on MPSIH skeletal dysplasia.
MRI of cardiomyopathy Belloni, Elena; De Cobelli, Francesco; Esposito, Antonio ...
American journal of roentgenology (1976),
12/2008, Volume:
191, Issue:
6
Journal Article
Peer reviewed
The aims of this article are to present the main features of MRI of cardiomyopathy and to show selected images of cardiomyopathies.
Cardiomyopathy is a frequent reason for cardiac MRI evaluation, ...which is now considered the most appropriate imaging technique for the diagnosis and follow-up of this wide range of myocardial diseases.
Erdheim-Chester disease (ECD) is a rare form of systemic non-Langerhans cell histiocytosis with characteristic bone involvement. However, extraskeletal involvement occurs in approximately half of the ...patients. Because of its protean findings, the diagnosis of ECD is often delayed; thus, a clinical suspicion may prompt specific imaging studies to recognize suggestive signs of organ involvement. In this study, a case of a patient with ECD with representative progressive multisystemic involvement has been reported; although the final diagnosis was confirmed by histologic analysis, imaging studies with almost pathognomonic findings guided the diagnostic process and prompted different therapeutic approaches according to the localization of the disease.
To compare breath-hold, three-dimensional, gadolinium-enhanced magnetic resonance (MR) angiography with three-dimensional, phase-contrast MR angiography in the evaluation of renal artery stenosis.
...Fifty-five consecutive adult patients with clinical suspicion of renovascular disease were prospectively examined with three-dimensional, phase-contrast MR angiography and breath-hold, three-dimensional MR angiography with injection of a standard dose of gadopentetate dimeglumine to evaluate the number of renal arteries and the presence and degree of stenosis. The standard of reference was intraarterial digital subtraction angiography.
Gadolinium-enhanced MR angiography depicted all 105 main renal arteries, whereas phase-contrast MR angiography depicted 104. The number of accessory renal arteries depicted was significantly higher with gadolinium-enhanced (17 of 18) than with phase-contrast (11 of 18) studies (P = .04). Both techniques depicted 27 of the 29 stenoses (sensitivity, 93%; P > .05). Sensitivities, specificities, and accuracies in the diagnosis of hemodynamically significant stenosis (> 50% narrowing) were, respectively, 94%, 96%, and 96% for phase-contrast and 100%, 97%, and 98% for gadolinium-enhanced MR angiography (P > .05).
Gadolinium-enhanced MR angiography is superior to phase-contrast MR angiography in accessory renal artery depiction. No statistically significant difference in the assessment of stenosis has been found between the two techniques.
Non-compaction of the ventricular myocardium (NCVM) is a rare disorder of myocardial morphogenesis usually diagnosed in paediatric age associated with high mortality rates. Among reported cases, NCVM ...has been described in only six patients > or = 70 years. We describe the case of a 74-year-old male with NCVM involving the left ventricle, representing one of the oldest patients ever reported in the literature. Of note, this case was characterized by late appearance of NCVM and rapid deterioration of clinical conditions. The wide age range of symptom onset from prenatal to geriatric age supports the hypothesis that NCVM is a multifactorial rather than a simple congenital disorder.
To evaluate screening with three-dimensional (3D) phase-contrast magnetic resonance (MR) angiography with a phased-array multicoil to detect renal artery stenosis.
Fifty consecutive patients ...suspected of having renovascular disease were prospectively examined with 3D phase-contrast MR imaging with a phased-array multicoil. Findings were correlated with those at intra-arterial digital subtraction angiography (DSA) as the standard of reference for grade of stenosis.
MR angiography depicted 101 of 103 renal arteries depicted at intraarterial DSA; the two missed arteries were an accessory artery outside the imaging volume and an artery with a stent. At intraarterial DSA, a stenosis was found in 31 of 101 arteries. On the basis of findings at 3D phase-contrast MR angiography, the presence of any degree of stenosis was correctly depicted in 29 of 31 cases and the absence of stenosis was correctly depicted in 66 of 70 cases (accuracy, 94%; sensitivity, 94%; negative predictive value, 97%). Overall accuracy was 97% for correct depiction of severe renal artery stenosis (> 50%).
3D phase-contrast MR angiography with a phased-array multicoil was an accurate noninvasive screening technique in patients with suspected renal artery stenosis.
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