Medullary carcinoma of thyroid gland in a girl aged 10 years

A healthy girl of 10 years presented with lumps on her tongue, shown on biopsy to be neuromas. She had had operations to her feet for pes cavus and was relatively long-limbed but had no other 'Marfanoid' features. She had a high plasma calcitonin level. At operation a normal sized thyroid gland was totally removed. It contained two discrete masses of malignant C-cells and diffuse foci elsewhere. The plasma calcitonin fell slowly to normal on follow-up but was noted to be rising 2 1/2 years later. We stress the importance of making this diagnosis as early as possible and mention briefly another child aged 15 months, similarly diagnosed and operated upon.     

Congenital apical left ventricular aneurysm

Congenital ventricular aneurysm is an infrequently occurring disease entity that usually affects the left ventricle. Its etiopathology is unknown. Clinical presentation is variable, and the condition is potentially lethal in some cases. Various imaging techniques are useful in diagnosis and enable the condition to be differentiated from congenital left diverticulum. We present a patient with a calcified congenital ventricular aneurysm who presented with supraventricular and ventricular arrhythmias and who was treated by surgical resection.     

Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations

LMNA mutations have been associated with familial or sporadic dilated cardiomyopathy (DC), with or without conduction system disease. We studied the LMNA gene in 67 consecutive patients with DC (18 had familial DC, 17 had possible familial DC, and 32 sporadic DC). From genomic DNA, coding regions of the LMNA gene were amplified by polymerase chain reaction, studied by single-strand conformation polymorphism, and cycle sequenced. Mutations were confirmed by restriction fragment length polymorphism. Two disease-causing mutations were found in families A and B. In family A, a novel R349L mutation was present in the mother and her identical twin daughters. They required cardiac transplantation at 36, 18, and 20 years of age. In family B, the R190W mutation was present in 2 cousins with DC and without conduction system disease (1 had cardiac transplantation at 45 years of age and 1 died suddenly at 46 years of age) and in 2 of their sons. The mothers of the 2 affected patients died due to cardiac causes in their 40s (1 died suddenly). One of the carriers fulfilled diagnostic criteria for isolated left ventricular noncompaction. Our data associated the R349L and R190W mutations in LMNA with severe forms of familial DC. LMNA mutations should be considered in the genetic screening of patients with familial DC without conduction system disease. Isolated left ventricular noncompaction may be part of the phenotypic spectrum of the laminopathies.     

Joint Drug Purchases and Drug Preparation Risk Behaviors Among Puerto Rican Injection Drug Users

In the process of preparing jointly purchased drugs, injection drug users (IDUs) may share drug preparation materials and use a single syringe to distribute injectable drugs. The aim of this study was to examine the association of joint drug purchasing with drug preparation risk behaviors among Puerto Rican IDUs. The study sample comprised 555 IDUs from New York City and 297 from Puerto Rico. IDUs reported pooling money for 12% of the injection episodes in New York, and for 14% of the injection episodes in Puerto Rico. In both study sites, all correlation coefficients between frequency of pooling money and drug preparation behaviors were .30 or larger. After controlling for sociodemographics, drugs injected, and injection frequency, pooling money was significantly associated to all four drug preparation behaviors in both study sites. HIV prevention interventions need to be cognizant of the joint purchasing of drugs and its relationship to drug preparation risk behaviors.     

Gender Differences in HIV Risk Behaviors Among Puerto Rican Drug Injectors by Awareness of HIV Seropositive Status

This study examined HIV injection- and sex-related risk behaviors among Puerto Rican drug injectors by gender, separately for those who were aware of being HIV positive and those who believed they were seronegative or were unaware of their serostatus. The participants (N = 873: 561 in New York; 312 in Puerto Rico) were recruited from January 1998 to July 1999 in the two sites by street outreach workers. Of the participants, 81% were males and 19% self-reported that they were previously told that they had been infected with HIV. Significant gender differences existed in injection and sexual risk behaviors in bivariate analyses. The factors related to HIV risk behaviors between males and females differed after controlling for the impacts of other variables in multivariate analyses. Self-efficacy for risk behaviors was significantly related to all of the HIV risk behaviors. Components of HIV prevention programs should include enhancing self-efficacy for reducing risk behaviors.     

IGF-I, IGFBP-3 and ALS generation test in Turner syndrome.

OBJECTIVES: The pathophysiology of the short stature in girls with Turner syndrome (TS) is not well understood. The "IGF-I generation test" is used to assess the sensitivity to growth hormone. We compared the biochemical response to four days of growth hormone of TS and controls. STUDY DESIGN: Pre-pubertal TS were recruited to participate in the study. Their siblings served as controls. IGF-I, IGFBP-3 and ALS were measured before and 5 days after using hGH (0.05mg/kg/day). Student-t test was used to compare the differences in their responses. RESULTS: Eleven TS (mean age of 8.5+/-2.4) and 11 siblings (6 females and 5 males) (mean age of 7.0+/-2.0) participated in the study. The basal serum levels of IGF-I, IGFBP-3 and ALS were normal and not different between groups (p=0.62 for IGF-I, p=0.91 for IGFBP-3 and p=0.51 for ALS). The IGF-I generation test was positive in all controls and in 10/11 TS. The IGFBP-3 generation test was positive in 6/11 controls and 4/11 TS. After hGH the mean IGFBP-3 was lower in TS than in controls (p=0.08). The ALS response to hGH was not uniform between groups. CONCLUSIONS: The IGF-I and ALS generation test results were not different between controls and TS. The IGFBP-3 results were higher in the control group but more than 50% of tested children did not pass. The IGF-I/IGFBP-3 generation tests, as presently done, did not help in the understanding of the short stature in TS. The use of different GH dosages and number of doses need to be investigated.     

Epidemiologic background and long-term course of disease in human immunodeficiency virus type 1-infected blood donors identified before routine laboratory screening. Transfusion Safety Study Group

BACKGROUND: The long-term course of human immunodeficiency virus type 1 (HIV-1)-related disease among seropositive blood donors has not been described. The enrollment and epidemiologic background of HIV-1- infected donors in the Transfusion Safety Study and their immunologic and clinical progression are described. STUDY DESIGN AND METHODS: Through the testing of approximately 200,000 sera from donations made in late 1984 and early 1985, 146 anti-HIV-1-positive donors and 151 uninfected matched donors were enrolled. These two cohorts were followed with 6-month interval histories and laboratory testing. RESULTS: Seropositive donors detected before the institution of routine anti-HIV-1 screening disproportionately were first-time donors and men with exclusively male sexual contacts. The actuarial probability of a person's developing AIDS within 7 years after donation was 40 percent; the probability of a person's dying of AIDS was 28 percent. AIDS developed more often when the donor was p24 antigen-positive at donation. Over a 3-year period, significant decreases occurred in CD4+, CD2+CD26+, CD4+CD29+, and CD20+CD21+ counts, but not in CD8+ subsets, CD20+, or CD14+. CONCLUSION: The high proportions of first-time donations and exclusively homosexual men among seropositive donors suggest that test-seeking may have contributed to the high HIV-1 prevalence in the repository. Implementation of alternative test sites when routine donor screening began in 1985 may have averted many high- risk donations. The disease course in HIV-1-infected donors had the same wide spectrum of immunologic and clinical manifestations as were reported for other cohorts.