Congenital Cataract

The operative results in 106 consecutive eyes with congenital cataract are reviewed and compared with other reported series. This group comprised 49 cataracts due to rubella, 54 congenital of unknown ætiology, and three in mongols. Twenty-four of the rubella eyes were microphthalmic.     

Single versus double unrelated umbilical cord blood units for allogeneic transplantation in adults with advanced haematological malignancies: a retrospective comparison of outcomes

Background: Unrelated umbilical cord blood has emerged as an alternative stem cell source for allogeneic transplantation for patients with haematological malignancies, but in adults is limited by the low number of stem cells present in banked cord blood units. We report our experience with double cord blood transplants for adult patients. The aim of the study was to compare the outcomes of double unrelated cord blood transplants in adults with poor prognosis haematological diseases with single cord blood transplants.
Methods: Eleven patients, median age 27 years and median weight 69 kg, received transplants of two partially matched unrelated cord blood units after myeloablative conditioning therapy.
Results: Neutrophil recovery to 0.5 × 10⁹/L was seen by median day 32 (18–53), and platelet recovery to 50 × 10⁹/L by day 91 (56–381). These results were not significantly different from those reported in patients receiving single cord blood transplants. Acute graft-versus-host disease of grades II–IV was seen in four patients, but no chronic graft-versus-host disease occurred. Transplant-related complications were responsible for the deaths of five patients in the first 3 months post-transplant, whereas two patients died of relapse of their haematological malignancy. Four patients survive, disease free, 17–33 months post-transplant.
Conclusion: Transplantation using two partially matched unrelated cord blood units did not appear to result in improvements either in engraftment or survival, as compared with a previous cohort of patients receiving single cord blood units. Further strategies appear to be needed to reduce the duration of severe neutropenia and reduce the high transplant-related mortality in these patients.     

Management of thyroid nodules detected at US: Society of Radiologists in Ultrasound consensus conference statement

The Society of Radiologists in Ultrasound convened a panel of specialists from a variety of medical disciplines to come to a consensus on the management of thyroid nodules identified with thyroid ultrasonography (US), with particular focus on which nodules should be subjected to US-guided fine needle aspiration and which thyroid nodules need not be subjected to fine-needle aspiration. The panel met in Washington, DC, October 26-27, 2004, and created this consensus statement. The recommendations in this consensus statement, which are based on analysis of the current literature and common practice strategies, are thought to represent a reasonable approach to thyroid nodular disease.     

Reducing errors in identification of von Willebrand disease: the experience of the royal college of pathologists of australasia quality assurance program

Regular multilaboratory surveys of laboratories derived primarily from Australia, New Zealand, and Southeast Asia have been conducted during the last 8 years to evaluate testing proficiency in the diagnosis of von Willebrand disease (vWD). We summarize and update the findings of these surveys with a particular emphasis on diagnostic errors and error rates associated with particular tests or test panel limitations. A total of 43 plasma samples have been dispatched to survey participants. These have included 13 normal samples, five type 1 vWD samples, eight type 2 vWD samples (three 2A, three 2B, one 2M, and one 2N), and four type 3 vWD samples. In addition to numerical test results, participant laboratories (currently, n = 49) were asked to provide diagnostic interpretations regarding results, and whether or not vWD was suggested, and if so, a probable subtype. Although laboratories usually provided correct interpretative responses, diagnostic errors occurred in a substantial number of cases. On average, type 1 vWD plasma was misidentified as type 2 vWD in 13.3% of cases, and laboratories performing von Willebrand factor (vWF):ristocetin cofactor activity (RCo) without vWF:collagen-binding activity (CB) were seven times more likely to make such an error compared with those performing vWF:CB. Similarly, type 2 vWD plasma was misidentified as type 1 or type 3 vWD in an average of 20.1% of cases, and laboratories performing vWF:RCo without vWF:CB were three times more likely to make such an error compared with those performing vWF:CB. Finally, normal plasma was misidentified as vWD in an average of 6.7% of cases, and laboratories performing vWF:RCo without vWF:CB were four times more likely to make such an error compared with those performing vWF:CB. We conclude that although laboratories are generally proficient in tests for vWD, diagnostic errors do occur and error rates are substantially reduced when test panels are more comprehensive and include the vWF:CB.     

An exposure-response curve for copper excess and deficiency

There is a need to define exposure-response curves for both Cu excess and deficiency to assist in determining the acceptable range of oral intake. A comprehensive database has been developed where different health outcomes from elevated and deficient Cu intakes were assigned ordinal severity scores to create common measures of response. A generalized linear model for ordinal data was used to estimate the probability of response associated with dose, duration and severity. The model can account for differences in animal species, the exposure medium (drinking water and feed), age, sex, and solubility. Using this model, an optimal intake level of 2.6 mg Cu/d was determined. This value is higher than the current U.S. recommended dietary intake (RDI; 0.9 mg/d) that protects against toxicity from Cu deficiency. It is also lower than the current tolerable upper intake level (UL; 10 mg/d) that protects against toxicity from Cu excess. Compared to traditional risk assessment approaches, categorical regression can provide risk managers with more information, including a range of intake levels associated with different levels of severity and probability of response. To weigh the relative harms of deficiency and excess, it is important that the results be interpreted along with the available information on the nature of the responses that were assigned to each severity score.     

Family history associated with improved functional outcome following ischemic stroke

BACKGROUND: Few studies to date have documented genetic influences on outcomes of hospitalization among patients with acute ischemic stroke. OBJECTIVE: To assess the influence of the family history of stroke on in-hospital mortality and hospitalization outcome among patients having acute ischemic stroke. METHODS: The medical records for 916 consecutive adult patients admitted for acute ischemic stroke during 12/1/2001-2/28/2002 at 34 randomly selected Georgia hospitals were centrally abstracted. The patients were classified as having a positive family history of stroke or not. The two groups were compared on risk factors, comorbidities, admission characteristics, hospital disposition status, and outcome measures. Multivariate logistic regression was used to assess the independent contributions of important variables identified by univariate screening. RESULTS: A positive family history of stroke was significantly associated with a decreased frequency of medical history of coronary artery disease, a decreased frequency of medical history of congestive heart failure, an increased frequency of medical history of hypertension, and younger age among patients with acute ischemic stroke who were 18 years or older. The family history was not associated with in-hospital mortality (odds ratio 1.49, 95% confidence interval 0.79-2.80 for incident cases). The interaction of family history and age was significantly associated with discharge destination and discharge functional status. CONCLUSIONS: Preliminary analyses found associations between family history and stroke outcome. The role of a family history of stroke in stroke outcome merits further study.