Autopsy-proven Huntington's disease with 29 trinucleotide repeats.

Huntington's disease (HD) is a neurodegenerative disorder associated with expansion of CAG trinucleotide repeats in the huntingtin gene. A minimum of 36 CAG repeats is usually reported in patients with clinical features of HD; 30 to 35 repeats represent an intermediate range. Here we report a 65-year-old male with autopsy-proven HD and 29 CAG repeats.     

The role of sentinel node biopsy in the management of melanocytic lesions of uncertain malignant potential (MUMP).

Melanocytic lesions of uncertain malignant potential (MUMP) is a term which is useful in identifying melanocytic tumours where the distinction between benign and malignant is a histological problem. Sentinel node biopsy is recognised to provide unmatched prognostic information in melanoma patients, but has recently been advocated for diagnostic purposes in MUMP. We present the case of a seven-year-old girl who presented with a six-month history of a changing pigmented lesion on her left upper arm. Excision biopsy not only showed a melanocytic lesion with some spitzoid features but also marked atypia making it appropriate to use the term MUMP. Sentinel node biopsy was undertaken. This case demonstrates that sentinel node biopsy can be performed safely in children. Given the low morbidity of the procedure we advocate that this technique should be considered in this difficult diagnostic situation to further the management of these patients.     

Perceptual dysfunction in hemiplegia and automobile driving.

Sixteen post-stroke, hemiplegic patients, who requested that they be allowed to return to driving, were extensively evaluated by a physiatrist, psychologist, occupational therapist, and driver training specialist. After they completed a driver training program, the patients were divided into three groups based on their driving program success and follow-ups. Significant differences in the psychological test results were found between Group I (those who drove without any difficulty) and Groups II and III (those who drove limited distance or who failed driver training). Results suggest that patients with significant cognitive and perceptual problems who take training and limit their driving can be safe drivers when they return to driving.     

Guanylnucleotide specificity for muscarinic receptor inhibitory coupling to cardiac adenylate cyclase.

The guanylnucleotide specificity of muscarinic acetylcholine receptor (MR) inhibitory coupling to cardiac adenylate cyclase (AC) was investigated under low MgCl2 (i.e., 0.5 mM) conditions. In purified cardiac sarcolemma, carbachol maximally inhibited AC activity 60% in the presence of GTP. Carbachol-dependent inhibition in the presence of guanosine 5'-O-(3-thiotriphosphate (GTP gamma S) or guanylylimidodiphosphate [Gpp(NH)p] was of lesser magnitude (i.e., 30%) and was evident only during short incubation periods. Of greater interest, carbachol maximally inhibited AC activity in the presence of GDP and guanosine 5'-O-(2-thiodiphosphate (GDP beta S) by 35 and 60%, respectively. Control studies ruled out transphosphorylation of GDP and GDP beta S by nucleoside diphosphate kinase or guanylnucleoside triphosphate contamination as reasons for the inhibitory effects of GDP and GDP beta S. Furthermore, isoproterenol stimulated AC in the presence of GTP, GTP gamma S, and Gpp(NH)p but not in the presence of GDP or GDP beta S. Therefore, GDP and GDP beta S may serve as agonists on MR-activated Gi but not on beta-adrenergic receptor-activated Gs in these membranes. Time course studies revealed that carbachol-dependent inhibition of AC in the presence of either GTP or GDP occurred without a detectable lag period, and this inhibition was rapidly reversed by atropine. In contrast, a 1-2-min lag time was required for carbachol- and GDP beta S-dependent inhibition of AC to occur, and inhibition, once developed, was only partially and slowly reversed by atropine. Preincubation of sarcolemma with carbachol and GDP beta S, in the absence of ATP or under nonphosphorylating conditions, eliminated the lag time for inhibition of AC activity. Although it is unlikely that GDP and GDP beta S have physiological relevance of MR-Gi-AC coupling, these studies provide unique insights into this coupling mechanism in cardiac membranes.     

Correlation of change in phage type with pulsed field profile and 16S rrn profile in Salmonella enteritidis phage types 4, 7 and 9a.

Using pulsed-field gel electrophoresis (PFGE) and 16S rRNA (rrn) analysis (ribotyping), the in vivo derivation of strains of Salmonella enteritidis PTs 9a and 7 from a strain of S. enteritidis PT 4 has been demonstrated. All strains were isolated from a single patient over a 6-week period. Further studies have demonstrated that in terms of pulsed-field profile and ribotype, the genotypes of the patient-derived strains differed from those of the reference strains of the respective phage types. It is concluded that when used in combination, these methods can provide evidence of phylogenetic relationships in apparently unrelated S. enteritidis phage types isolated during pathogenesis of disease.     

Modification of the percutaneous approach to peritoneal dialysis catheter placement under peritoneoscopic visualization: clinical results in 78 patients.

The placement of percutaneous peritoneal dialysis catheters under direct peritoneoscopic visualization is a relatively new technique for establishing peritoneal dialysis access. In this study, in which a modification of the Seldinger technique was used to facilitate the placement of the peritoneoscope, the experience with 82 consecutive catheterization procedures in 78 patients is reported. In 2 (2.4%) of 82 catheterization procedures, we were unable to enter the peritoneal cavity but experienced no other complications unique to the percutaneous approach. Of the 80 successful catheterization procedures, 76 represented first-time catheter placement and constituted a population subjected to life-table analysis examining catheter survival rates, the time to first cutaneous exit site or s.c. tunnel infection, and the time to first episode of peritonitis. After a follow-up period of 50.1 patient yr, 11 catheters were lost because of catheter dysfunction. Other clinical complications included peritoneal fluid leaks at the cutaneous exit site in 11 instances (0.22/patient yr), cutaneous exit site infection in 7 instances (0.14/patient yr), s.c. tunnel infection in 2 instances (0.04/patient yr), and 34 episodes of peritonitis (0.68/patient yr). The results of this study demonstrate that the suggested modification of the percutaneous placement of peritoneal dialysis catheters, under peritoneoscopic visualization, is a viable method for establishing peritoneal access.     

Screening for diabetic retinopathy in primary care with a mobile fundal camera--evaluation of a South African pilot project.

BACKGROUND AND AIMS: In South Africa diabetes makes a significant contribution to the burden of disease. Diabetic retinopathy is a leading cause of adult blindness, and screening can reduce the incidence. This project aimed to implement and evaluate a new service for retinal screening that uses a non-mydriatic mobile fundal camera in primary care. This is the first time such a service has been evaluated in an African primary care context. METHODS: The service was implemented as an operational research study at three community health centres and data were collected to evaluate the operational issues, screening, reporting and referral of patients. RESULTS: Out of 400 patients screened 84% had a significantly reduced visual acuity, 63% had retinopathy (22% severe nonproliferative, 6% proliferative and 15% maculopathy), 2% of eyes could not be screened and 14% of patients required dilatation. Referral was necessary in 27% of cases for cataracts, in 7% for laser treatment and in 4% for other specialist services. Repeat photography was needed in 8% and urgent follow-up in 12%. A SWOT analysis of the pilot project was completed and recommendations were made on how to integrate it into the district health system. CONCLUSION: Screening with a fundal camera improved the quality of care for diabetic patients and is feasible in the South African public sector, primary care setting. A single technician should be able to photograph almost 10,000 patients a year.