Imiglucerase, cholecalciferol, and bone-diet in skeletal health management of type I Gaucher disease patients: a pilot study and systematic review.

Skeletal anomalies represent a characteristic feature of type 1 Gaucher disease (GD1). Here we evaluated the impact of an integrated therapy comprising enzyme-replacement therapy (ERT), cholecalciferol, and a normocalcemic-normocaloric-hyposodic diet (bone diet) on bone health in GD1 patients. We also performed a systematic review to compare our results with available data.

Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI.

BACKGROUND: Mucopolysaccharidosis type VI (MPS VI) is an inherited multisystem lysosomal disorder due to arylsulfatase B (ARSB) deficiency that leads to widespread accumulation of glycosaminoglycans (GAG), which are excreted in increased amounts in urine. MPS VI is characterized by progressive dysostosis multiplex, connective tissue and cardiac involvement, and hepatosplenomegaly. Enzyme replacement therapy (ERT) is available but requires life-long and costly intravenous infusions; moreover, it has limited efficacy on diseased skeleton and cardiac valves, compromised pulmonary function, and corneal opacities.

Atypical dermoid cyst of the ovary during pregnancy: A multi-modality diagnostic approach.

We report a case of a sixth-month-pregnant 37-year-old woman with abdominal pain with the presence of a dermoid cyst of the left ovary. The diagnostic work-up required a multi-modality imaging approach. In particular, US and MR examinations were initially performed but resulted with an inconclusive outcome of a final diagnosis.

The role of imaging in the skeletal involvement of mucopolysaccharidoses.

This article discusses the role of imaging modalities including radiography, multi-detector computed tomography, magnetic resonance imaging, and ultrasound in diagnosing and monitoring skeletal abnormalities in mucopolysaccharidoses (MPS). The advantages and disadvantages of these different imaging tools will be discussed, along with their feasibility in this class of patients. As the musculoskeletal involvement is common to all MPS and is one of the main reasons for seeking medical attention, an increased awareness among paediatricians, rheumatologists, orthopaedists, radiologists, and other musculoskeletal specialists on the possible spectrum of abnormalities observed could facilitate a timely diagnosis, an appropriate severity evaluation, and better management.

Long-term clinical results and MRI changes after autologous chondrocyte implantation in the knee of young and active middle aged patients.

Background: Autologous chondrocyte implantation (ACI) represents a valid surgical option for symptomatic full-thickness chondral lesions of the knee. Here we report long-term clinical and MRI results of first-generation ACI.

Materials And Methods: Fifteen patients (mean age 21.

Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene.

Introduction: Mutations in the lamin A/C protein cause laminopathies, a heterogeneous group of disorders that include recessive axonal neuropathy (CMT2B1), Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), dilated cardiomyopathy with conduction defect, and different forms of lipodystrophy and progeria.

Methods: We provide clinical, histopathological, muscle imaging, and cardiac features of a family with heterozygous mutation in the LMNA gene.

Results: We identified heterozygous mutations (c.

F-18 FDG PET/CT quantization parameters as predictors of outcome in patients with diffuse large B-cell lymphoma.

Aim: We evaluated the prognostic significance of standardized uptake value (SUVmax), metabolic tumor volume (MTV), and total lesion glycolysis (TLG) obtained by F-18 FDG PET/CT (PET/CT) in patients with diffuse large B-cell Lymphomas (DLBCL) presenting intermediate IPI score.

Material And Methods: Fifty-two patients (61 ± 13 yr) underwent PET/CT before the first-line chemotherapy. The mean SUVmax value, the summed MTV (cm(3) ; 42% threshold), and the cumulative TLG (g) were registered.

Magnetic resonance imaging and ultrasound evaluation of "healthy" joints in young subjects with severe haemophilia A.

Magnetic resonance imaging (MRI) and ultrasonography (US) are increasingly used in haemophilia A (HA) to detect early joint changes. A total of 40 clinically asymptomatic joints, never involved by bleeding events ["healthy joints" (HJ)], were evaluated by MRI and, in parallel, by US in 20 young subjects with severe HA (22.45 ± 2.

Long-term clinical results and MRI changes after tendon ball arthroplasty for advanced Kienbock's disease.

The purpose of this study was to assess the long-term clinical results and morphological changes after tendon ball arthroplasty for advanced Kienböck's disease. Twenty-six patients were reviewed, with a mean follow-up interval of 125 months (range 50-226). At follow-up, mean score on the Disabilities of the Arm, Shoulder, and Hand questionnaire was 7.

Discovertebral erosions in patients with enteropathic spondyloarthritis.

Objective: Magnetic resonance imaging (MRI) is considered the modality of choice for the diagnosis of spondyloarthropathy (SpA)-related spondylodiscitis, or discovertebral erosions (DE). Our aim was to analyze the prevalence and the clinical features of DE in patients with enteropathic SpA (EA) using MRI.

Methods: We evaluated 72 patients with EA and 43 controls for the study.

New developments in magnetic resonance imaging of the nail unit.

The evolution of dedicated magnetic resonance imaging (MRI) musculoskeletal equipment allows new sequences and better images of the nail unit. The use of MRI has modified the imaging strategies used in treating inflammatory arthritis. In the case of psoriatic arthritis (PsA), the MRI study of the nail unit identifies nail involvement, which appears as an initial lesion for the induction of distal phalanx damage and consequently of distal interphalangeal joint arthritis.

Magnetic resonance imaging of nail unit in psoriatic arthritis.

The use of magnetic resonance imaging (MRI) has modified the imaging strategies of inflammatory arthritides. In psoriatic arthritis (PsA), MRI study of the nail unit identifies nail involvement that appears as the initial lesion for induction of distal phalanx damage and consequently of distal interphalangeal joint arthritis. All psoriatic patients, also in the absence of a clinically evident onychopathy, show characteristic MRI changes of the nail.

Interleukin (IL)-6 and receptor activator of nuclear factor (NF)-kappaB ligand (RANKL) are increased in the serum of a patient with primary pachydermoperiostosis.

Primary pachydermoperiostosis (PDP) is a rare syndrome, characterized by digital clubbing, periostosis, and pachydermia. We have evaluated biochemical bone turnover markers, including components of interleukin-6 (IL-6) and osteoprotegerin/receptor activator of nuclear factor (NF)-kappaB ligand (OPG/RANKL) systems, in an 18-year-old man affected by primary PDP. The acute phase of the disease was characterized in our patient by high serum levels of IL-6 and RANKL.

Nail and distal interphalangeal joint in psoriatic arthritis.

Objective: To study distal interphalangeal (DIP) joints in patients with psoriatic arthritis (PsA) with or without onychopathy, using magnetic resonance imaging (MRI).

Methods: Twenty-three patients with PsA (9/14 F/M, median age 47 yrs), 12 with onychopathy (2/10 F/M, median age 44 yrs) and 11 without (7/4 F/M, median age 52 yrs), and 10 control subjects (5/5 F/M, median age 43.2 yrs) were enrolled.

Accuracy of sonographic volume measurements of kidney transplant.

Purpose: Sonographic measurement of renal volume is one of the parameters used in the diagnosis of renal transplant dysfunction and in follow-up of patients with renal transplant. The aim of this study was to compare the prolate ellipsoid formula with a new formula in calculating the volume of a transplanted kidney.

Methods: The renal volumes in 24 patients with a stable renal transplant were determined sonographically with the ellipsoid formula and via helical CT with the voxel-count method, which is the gold standard.

Triphasic helical CT in Budd-Chiari syndrome: patterns of enhancement in acute, subacute and chronic disease.

Aim: To retrospectively evaluate helical computed tomography (CT) findings in a series of consecutive patients with Budd-Chiari syndrome.

Methods: Patterns of enhancement observed at contrast-enhanced helical CT in 10 consecutive patients (six women, four men; aged 27-51 years) with either acute, subacute or chronic Budd-Chiari syndrome were retrospectively evaluated along with the status of the hepatic veins. All patients underwent triphasic helical CT (10 mm beam collimation, 7 mm rec.

Splenic hypoperfusion as a sign of systemic amyloidosis.

Background: The spleen is frequently involved in systemic amyloidosis; however, the computed tomographic (CT) or magnetic resonance (MR) pattern of splenic amyloidosis is not sufficiently described in the literature. This study evaluated the contrast-enhanced CT and MR findings of the spleen in patients with systemic amyloidosis.

Methods: Data were extracted by reviewing pathology and radiology department records of the teaching hospital of Naples over 10 years, from 1 January 1993 to 31 December 2002.

Giant cell tumor and Paget's disease of bone in one family: geographic clustering.

Giant cell tumor is a rare complication of Paget's disease of bone. Typically, this tumor occurs in the case of polyostotic disease and only in pagetic bones. This tumor rarely has been seen in multiple family members who have Paget's disease, although Paget's bone disease clearly has a hereditary component.

Hepatic and splenic amyloidosis: dual-phase spiral CT findings.

Although the liver and spleen are frequently involved in primary systemic amyloidosis, the clinical manifestations of hepatic and splenic involvement are usually mild and a dominant symptomatic hepatic presentation is uncommon. We report a case of a 51-year-old woman with giant hepatomegaly, hypertransaminasemia, increase in alkaline phosphatase, and ascites, in whom the findings of dual-phase spiral computed tomography suggested liver and splenic amyloidosis.

Spleen enlargement following recombinant human granulocyte colony-stimulating factor administration for peripheral blood stem cell mobilization.

Background And Objectives: Recombinant human granulocyte colony-stimulating factor (rhG-CSF) is widely used to mobilize peripheral blood stem cells (PBSC) for autologous or allogeneic transplants. Such treatment may cause spleen enlargement; exceptionally, spontaneous spleen rupture has been reported. We investigated changes in spleen size during stem cell mobilization.

Measurement of spleen volume by ultrasound scanning in patients with thrombocytosis: a prospective study.

Spleen size was assessed in 73 patients with thrombocytosis and in 15 healthy subjects, comparing palpation with ultrasonography (US) measurement of longitudinal diameter and volume. Intraobserver and interobserver variability for volume on US, checked in 12 patients, was very low. Correlation between spleen volume measured by US and that measured by computed tomography was excellent.

[CT in findings intestinal carcinoids].

CT findings in intestinal carcinoids are various. While recognition of the primary tumour is a rare event, the contribution of CT in evaluating patients with suspected intestinal carcinoid is relevant, both for loco-regional staging and during long-term follow-up. Moreover, in the relatively frequent cases with an aspecific clinical onset, CT may be findings useful to direct diagnosis.