Increased plasma pyridoxal-5′-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia

Summary We measured plasma levels of pyridoxal-5-phosphate (PLP), a cofactor form of vitamin B6 and apparent natural substrate for alkaline phosphatase (ALP), in carriers and in non-carriers of the severe perinatal and infantile forms of hypophosphatasia, both before and after an oral load of pyridoxine (i.e. 1/3 mg/kg body weight). The assignment of carrier status was determined by serum ALP activity, level of serum inorganic phosphate, and if necessary urinary phosphoethanolamine excretion. Plasma PLP levels were significantly increased in the carriers both before and especially after B6 loading.     

Toward standardization of health information

NCVHS has made recommendations to the DHHS to standardize 42 core health data elements, a number of which relate to medical conditions and services. The committee has asked the DHHS Data Council to actively promote, both within the department and externally, standardization of data elements and definitions where substantial consensus already exists. For those elements that have been recognized as significant core data elements, but for which there is not consensus on approach or definition, the NCVHS is recommending that the Data Council support the formation of a public-private working group to conduct further study and evaluation. This group, or a separate group, could also be the focus for evaluating additions to the list of core data elements and for setting up methods for testing and promulgating the final products. The coming 12-18 months will be exceedingly important for health data standardization efforts in the US as the DHHS responds to both the NCVHS recommendations and the legislation recently enacted by Congress.     

Gender differences in HIV risk behaviors in an adult emergency department in New York City

Background The human immunodeficiency virus (HIV) epidemic in the US increasingly involved urban heterosexual adults, particularly women, belonging to ethnic minority groups. An understanding of gender-based differences in HIV risk behaviors within these groups would be of value in the ongoing struggle to limit HIV transmission in metropolitan centers. Methods This was a prospective study of demographic and historical characteristics and HIV risk behaviors. The study utilized a structured interview format, which was administered to all patients treated by participating emergency department physicians. Results On univariate analysis of data obtained from 1,460 patients who had neither a known HIV infection nor a chief complaint or final emergency department diagnosis associated with HIV risk behaviors, men were more likely to be older, homeless, to have ever injected drugs, used crack, engaged in same-gender sex, paid for sex, been incarcerated, or had syphilis or gonorrhea. Women were more likely to report prior chlamydia infection or to report that their sole sex partners had other partners within the past year. On multivariate analysis, variables independently associated with male gender included homelessness, injection drug use, crack use, any prior sexually transmitted disease (in subjects 35 years of age or older), and sex with prostitutes. In a separate analysis of patients admitting to drug use, the male predominance of other risk behaviors was not observed; the only significant differences between genders were a higher rate of prostitution among women and a higher rate of sexual contact with a prostitute among men. Conclusions In patients visiting an inner-city emergency department in the Bronx, HIV risk behaviors are generally more common in men, but rates of risk behaviors among male and female drug users are comparable. This work was supported in part by a collaborative agreement with the Centers for Disease Control and Prevention (U64/CCU200714). Drs. Shuter, Alpert, and DeShaw were supported in part by a training grant (5-T32-AI070183) from the National Institute of Allergy and Infectious Diseases. This study was presented in part at the 32nd Annual Meeting of the Infectious Diseases Society of America, October 1994, Orlando, Florida.     

Agenesis of the penis: patterns of associated malformations

Agenesis of the penis is a rare malformation that occurs in otherwise normal males or together with other anomalies. In this article, we document unusual patterns of malformations in four such infants and analyze the nature and incidence of defects in 57 cases by clinical evaluation and numerical classification techniques. Although patients with this condition previously have been divided into groups based on the position of the urethral meatus in relation to the anus (presphincteric, postsphincteric, urethral atresia), our analyses suggest that most cases can be classified into either a severe form (16%) with renal aplasia or dysplasia and other caudal anomalies or a second group (72%) with low mortality and fewer additional malformations. The remaining cases in our group represented unique patterns stemming from a variety of causes, including etretinate embryopathy and the human homologue of the disorganization mutation. Agenesis of the penis occurs as a consequence of single gene disorders, teratogenic effects, or malformation sequences and associations and in unrecognized patterns of anomalies. It thus should be considered a developmental field defect. Its concurrence with scrotal hypoplasia, absent raphe, and anal anomalies implies a major disturbance of the caudal mesoderm. In such cases, severe renal defects are usually seen, and the prognosis is poor. When the patient has a patent urethra and normal scrotum, raphe, and testes, however, penile agenesis may be a localized malformation of the genital tubercle potentially related to penoscrotal transposition, a phylogenetic anomaly that is the normal genital arrangement in male marsupials, rabbits, and certain other mammals. Infants with isolated penile agenesis have generally done well. In the past, many were not treated; however, current recommendations are to use appropriate surgical and endocrine techniques to reassign female gender and enhance sexual and psychosocial functioning, though this approach is the subject of controversy.     

Ventricular function

Multiple modalities contribute to the evaluation of ventricular function. The role of cineangiography, echocardiography, MR imaging, ultrafast CT, and nuclear medicine continue to evolve and improve our understanding of the physiology and pathophysiology of ventricular function. This article discusses the use and limitation of each modality.     

A brief motivational intervention to improve dietary adherence in adolescents. The Dietary Intervention Study in Children (DISC) Research Group.

Motivational interviewing offers health care professionals a potentially effective strategy for increasing a patient's readiness to change health behaviors. Recently, elements of motivational interviewing and the stages of change model have been simplified and adapted for use with patients in brief clinical encounters. This paper describes in detail a brief motivational intervention model to improve and renew dietary adherence with adolescents in the Dietary Intervention Study in Children (DISC). DISC is a randomized, multi-center clinical trial assessing the efficacy and safety of lowering dietary fat to decrease low-density lipoprotein cholesterol in high-risk children. In the first 3 years of follow-up covering ages 8-13, intervention participants (n = 334) were exposed to a family-based group intervention approach to change dietary choices. To address adherence and retention obstacles as participants moved into adolescence (age 13-17), an individual-level motivational intervention was implemented. The DISC motivational intervention integrates several intervention models: stages of change, motivational interviewing, brief negotiation and behavioral self-management. A preliminary test of the intervention model suggests that it was acceptable to the participants, popular with interventionists and appeared to be an age-appropriate shift from a family-based intervention model.     

Summary of analyses of problem 2 simulated data for GAW11

The simulated data for Problem 2 of the 11th Genetic Analysis Workshop (GAW11) consisted of family linkage data and disease data from three populations, each population with different genetic parameters. The disease was simulated such that there were two genetically distinct diseases, one caused by a single locus with three alleles and the other by two epistatically interacting loci. The two diseases were clinically identical. Each of the diseases had a severe and mild form. One of the diseases was influenced by an environmental factor and one by an allele at one of the marker loci (association). Linkage data consisted of 300 polymorphic markers. Investigators analyzed these data in a myriad of ways, using most currently available linkage techniques and association analysis methods. In addition, investigators also tested newly developed methods, some of which took advantage of the existence of the environmental component. Other types of analyses included meta-analyses, methods of combining data from different studies, questions of replication, how much information is available in a single data set, and analyses for gene x gene and gene x environment interaction.