Fragile X‐associated tremor/ataxia syndrome (FXTAS) in grey zone carriers

The grey zone (GZ; 45–54 CGG repeats in the FMR1 gene) is considered a normal allele; however, several studies have found a high frequency of GZ in movement disordered populations. Here, we describe neurological features of fragile X‐associated tremor/ataxia syndrome (FXTAS) in two carriers of GZ alleles, although FXTAS has been defined as occurring only in premutation carriers (55–200 CGG repeats). Both patients had family members who had premutation and were diagnosed with FXTAS. The presence of relatively high GZ alleles with elevated fragile X mental retardation 1 mRNA (FMR1‐mRNA) combined with a family history of FXTAS that may represent a facilitating genetic background for FXTAS are the factors that led to the presence of FXTAS in these individuals with a GZ allele. Further research into clinical involvement of GZ alleles is recommended and the definition of FXTAS may require revision.     

Retroviral-mediated transfer and amplification of a functional human factor VIII gene

Hemophilia A results from a deficiency in factor VII (FVIII), a cofactor in the intrinsic pathway of blood coagulation. As an approach toward genetic therapy of this disease, we constructed a retroviral vector encoding human FVIII and a selectable and amplifiable genetic marker, human adenosine deaminase (Ada). A retrovirus packaging line was transfected with this vector and stable transformants were selected for Ada expression. Isolated transformants produced both FVIII activity in the conditioned medium and retrovirus capable of transferring the Ada selectable marker and FVIII expression to the mouse 3T3 fibroblasts. Selection of virus-producer cell lines for increasing levels of Ada expression yielded a 20-fold increase in both FVIII expression and viral titer. Similarly, selection of infected 3T3 fibroblasts for Ada gene amplification yielded a 20-fold increase in FVIII expression. The results demonstrate the feasibility of retrovirus- mediated transfer of human FVIII, and also the utility of selection for gene amplification to increase retrovirus titers in producer cell lines as well as expression levels in infected cells.     

Angiomyolipoma arising in the renal sinus: A difficult radiologic diagnosis

We report a case of angiomyolipoma (AML) occurring in the renal sinus evaluated by intravenous urography (IVU), renal ultrasound (US), angiography, and computed tomography (CT). Imaging features of this lesion are identical to AMLs elsewhere, but preoperative diagnosis was complicated by the unusual occurrence of the tumor in this location in a patient with abdominal pain. Accurate preoperative diagnosis will allow tumorectomy or conservative management.     

The inter‐rater reliability between nurse‐assessors clinically assessing infection of chronic wounds using the WUWHS criteria

The aim of this study was to determine the inter‐rater reliability between one expert‐nurse and four clinical‐nurses who were asked to clinically assess infection of chronic wounds by using the World Union of Wound Healing Societies (WUWHS) criteria. A quasi‐experimental design was used to collect the data. In comparison to phase 1 in which ‘open questions’ were asked, in phase 2 a pre‐printed form (checklist) was introduced. In both phases, 55 chronic wounds were clinically assessed. For each WUWHS criterion the inter‐rater reliability of signs and symptoms was expressed by Cohens Kappa (κ). A substantial agreement (κ ≥ 0·6) was considered as adequate. In both phases pocketing (p < 0·02), and erythema (p < 0·004) scored statistically significant results. Phase 2 showed higher inter‐rater agreements compared with phase 1 (three substantial agreements (easily bleeding/friable granulation tissue, delayed healing, increasing exudate), an almost perfect‐ and a perfect agreement for malodour and pain, respectively. According to the results it can be concluded that the clinical assessment of infection of chronic wounds may be better supported by a pre‐printed form than making use of an ‘open questions’ form. To provide this with a higher level of evidence, there is need for more well conducted studies.     

Abdominal radiography after CT reveals urinary calculi: a method to predict usefulness of abdominal radiography on the basis of size and CT attenuation of calculi

OBJECTIVE: The purpose of this study was to determine if the radiographic visibility of urinary tract calculi could be predicted on the basis of CT features. MATERIALS AND METHODS: The images of 26 patients whose urinary tract calculi were revealed on unenhanced helical CT and who also underwent digital abdominal radiography were retrospectively reviewed. CT features studied included size and CT attenuation of the calculi. These CT findings were correlated with the ability to detect the same calculi with radiography. RESULTS: Forty-nine urinary tract calculi were detected with unenhanced helical CT in 26 patients. Twenty-six (53%) calculi were visible on radiography. Most (79%) calculi larger than 5 mm were detectable with radiography (p < 0.01). One (8%) of 13 calculi with CT attenuation below 200 H was detectable on radiographs. Ninety-five percent (21/22) of calculi with CT attenuation exceeding 300 H were visible on radiographs (p < 0.0001). The one remaining calculus was obscured by overlying anatomy. CONCLUSION: Radiographic surveillance of urinary tract calculi detected with CT may not be useful if the calculi have a CT attenuation below 200 H. Most calculi larger than 5 mm and nearly all calculi with a CT attenuation exceeding 300 H can be seen on abdominal radiographs.