Hematopoietic and fatty bone marrow distribution in the normal and ischemic hip: new observations with 1.5-T MR imaging

The conversion of hematopoietic to fatty marrow is known to correlate with physiologic decreases in intramedullary blood flow. To determine whether the chronology of conversion is altered in patients with hip ischemia, T1-weighted magnetic resonance (MR) images of the hips in 50 healthy people and 27 with documented avascular necrosis (AVN) were reviewed. The distribution of fatty (high-signal) versus hematopoietic (low-signal) marrow was noted with respect to age. All patients had fatty marrow in the femoral capital epiphysis and greater trochanter. Hematopoietic intertrochanteric marrow was seen in 95% (80 of 84) of femurs in control subjects less than 50 years old, but in only 12.5% (two of 16) of those in control subjects older than 50 years (P less than .005). Only 33% (19 of 57) of patients less than 50 years with AVN had predominantly hematopoietic intertrochanteric marrow (P less than .005). The early conversion to fatty marrow in most patients with AVN as depicted by MR imaging may be an effect of decreased vascularity of the proximal femur and may allow the identification of patients at increased risk for AVN.     

Femoral head avascular necrosis: correlation of MR imaging, radiographic staging, radionuclide imaging, and clinical findings

To better correlate the appearance of avascular necrosis (AVN) of the femoral head on magnetic resonance (MR) images with the stage of disease, MR images of 56 proved AVN lesions were compared with staging from corresponding radiographs (n = 56), Tc-99m scans (n = 41), and grade of symptoms (n = 28). Fractures complicating AVN were seen in 28 (50%) of 56 radiographs (radiographic stages III-V). With long repetition (TR) and echo delay (TE) times, a characteristic "double line sign" consisting of high signal intensity inside a low-intensity peripheral rim was seen in 45 lesions (80%). The central region within the rim was isointense with marrow fat on both short and long TR and TE images in 20 (71%) of 28 lesions uncomplicated by fracture (stages I-II) but in only four (14%) of 28 stage III-V lesions (P less than .001). Symptoms were least severe in lesions isointense with fat and most severe in lesions with low-signal central regions at short and long TRs and TEs. The peripheral double line sign on long TR/TE images may add specificity to the diagnosis of AVN by MR imaging. A chronologic pattern of central MR signal features is presented which may allow staging of AVN by MR imaging.     

Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10

The Usher syndromes (USH) are a group of autosomal recessive diseases characterized by progressive pigmentary retinopathy and sensorineural hearing loss. Five USH genes have been mapped and at least one additional gene is known to exist. By homozygosity mapping in a consanguineous family, a sixth USH gene has been localized. Clinical findings in the four affected children are consistent with established diagnostic criteria for Ush1. Linkage to known USH loci was excluded, and using two genomic DNA pools, one from the affected children and the other from the parents, 161 polymorphic markers evenly spaced across the autosomal human genome were screened. The location of the Ush1D gene was defined by the only region showing homozygosity by descent in the affected siblings, a 15 cM interval on chromosome 10q bounded by D10S529 and D10S573.