Therapeutic and management challenges in Wilson's disease

Abstract   Wilson's disease, an inborn error of copper metabolism, is an important cause of liver disease in India. A high index of suspicion is necessary for diagnosis as it can have a varied clinical presentation (e.g. all forms of acute and chronic liver disease, minimal to severe neurological disease, bony deformities, hemolytic anemia). Hepatic copper estimation is the most reliable diagnostic test, but is not easily available in India. In the absence of hepatic copper, a low ceruloplasmin, high 24 h urinary copper and presence of KF rings aid in making the diagnosis (at least two of these). Life-long therapy is necessary with D-Penicillamine, Trientine or zinc. Though response to therapy may be unpredictable, acute and early presentations such as fulminant hepatic failure have a poor outcome without liver transplantation. The siblings of all cases must be screened, as early diagnosis and treatment results in a good outcome. The identification of the Wilson's disease gene on chromosome 13 has led to the possible use of molecular genetics (haplotype and mutational analyses) in the diagnosis of the disease.     

Dual Morphology of Idiopathic Ventricular Tachycardia

INTRODUCTION: Idiopathic ventricular tachycardia (VT) typically has a single morphology originating either in the right ventricular outflow tract (RVOT) or near the posterior fascicle of the left ventricle (LV) in most instances. We present our observations in six patients with idiopathic VT in whom two morphologies were present. METHODS AND RESULTS: Of 55 patients with idiopathic VT who underwent radiofrequency (RF) ablation, 44 had LV "fascicular" tachycardia, whereas 11 had RVOT tachycardia. During RF energy delivery, there was a change in VT morphology in two patients with idiopathic LV tachycardia. This second morphology was not ablated initially, recurred at follow-up, and was reablated successfully. In two additional patients with idiopathic LV tachycardia, a second VT was inducible after ablation of the "clinical" VT. This second morphology recurred at follow-up and was ablated successfully in one patient. The site where the second VT was ablated in all the three patients was remote from that of the first VT. In two patients with RVOT tachycardia, a second VT, originating from a different area of the RVOT, was induced after RF ablation of the "clinical" VT. This second VT recurred at follow-up and was reablated successfully in one patient. CONCLUSION: Idiopathic VT is a more heterogenous entity than hitherto believed. A second VT was seen in 11% of patients during or after RF ablation of the "clinical" VT. The appearance of a second VT suggests either a different exit site of the same circuit or another site of origin.     

Emergence of Bidirectional Accessory Pathway Conduction in Adulthood

Emergence of AP Conduction in Adulthood. A 30-year-old woman presented with tachycardiomyopathy due to atrial flutter-fibrillation and underwent radiofrequency ablation of the AV node and VVIR pacemaker implantation. There was no evidence of any accessory pathway (AP) conduction during the AV nodal ablation or during chronic ventricular pacing. One year later, she had a transient preexcited tachycardia. A year after this, her ECG showed 1:1 AV conduction with preexcitation. Electrophysiologic study revealed a left lateral AP with anterograde and retrograde refractory periods of 280 and 240 msec, respectively. Successful radiofrequency ablation of the AP was performed. This case highlights a unique emergence of an AP in adult life.     

Patient Satisfaction and Reported Long-Term Therapeutic Efficacy Associated with 1,320 nm Nd:YAG Laser Treatment of Acne Scarring and Photoaging

BACKGROUND AND OBJECTIVE: Nonablative laser treatments have become increasingly used for the treatment of acne scarring and photoaging. While nonablative laser treatments are more convenient and relatively safer than ablative laser resurfacing, efficacy and patient satisfaction with the level of improvement of textural abnormalities in acne scarring and rhytids associated with photoaging needs further study. DESIGN/MATERIALS AND METHODS: Structured interviews were performed with 34 patients from a referral-based academic practice who each previously received a series of 6 monthly treatments with a 1,320 nm neodymium:yttrium-aluminum-garnet (Nd:YAG) laser for treatment of acne scarring or photoaging. Topical anesthesia was applied 1 hour before each treatment. Patients were interviewed at least 3 months after cessation of treatment (range 3-12 months). RESULTS: Patients tolerated the treatments well. Combined results for acne scarring and photoaging patients were as follows: (a) patient satisfaction with treatment was rated at 62%, and (b) textural improvement was reported at 31% at the end of the six treatments, and 30% at the date of interview. When results were stratified by diagnosis, patient satisfaction was slightly higher for treatment of acne scarring than for photoaging. Overall degree of improvement on a 1-10 scale was 5.4 for acne scarring and 3.8 for wrinkling. CONCLUSION: Nonablative treatment with the 1,320 nm Nd:YAG laser induced significant patient-reported improvement in both acne scarring and photoaging. The majority of patients reported satisfaction with the degree of improvement.     

Cerebral function in unoperated patients with non-cirrhotic portal fibrosis: A comparison with compensated non-alcoholic cirrhotics

Cerebral functions were studied in 22 unoperated patients with non-cirrhotic portal fibrosis (NCPF), 23 patients with compensated non-alcoholic cirrhosis of the liver and 45 healthy controls. In each patient electroencephalography (EEG) and psychometric tests were performed. Neither EEG nor any psychometric test was abnormal in patients with NCPF, whereas in patients with cirrhosis of the liver, EEG was abnormal in 9%, the number connection in 35%, five point star construction in 13% and reverse counting test in 39%. These results suggest that subclinical hepatic encephalopathy is not common in non-cirrhotic portal fibrosis seen in India.     

Evaluation of the healing process in fractures using early and delayed bone scanning

Fifty-two fracture sites were evaluated by bone scintigraphy after acquiring similar views of the lesions at 4 and 24 h following technetium-99 m methylene diphosphonate administration. After calculating 24/4 h radio-uptake ratio (RUR) and using 1.15 as the critical point of separation, fresh healing lesions could be separated from old healed fractures persisting as ‘hot spots’with a sensitivity of 100% and specificity of 82%. The 24/4 h RUR technique is a new approach in measuring the osteoblastic activity at the lesion site. The technique appears to have clinical significance in the detection and follow up of the healing status of occult fractures where radiological procedures are of limited value.