Acute intermittent porphyria and mental illness – a family study

All cases of acute intermittent porphyria (AIP) are believed to be caused by a mutation in the gene encoding for porphobilinogen deaminase, a rate-limiting enzyme in the haem synthetic pathway. This gene has been mapped to the long arm of chromosome 11, a region of the genome that has recently attracted considerable attention as a possible location for genes implicated in major mental disorder. This study was designed to show whether major mental illness co-segregated with acute intermittent porphyria in families where the two conditions are found. The study also investigated the relation between clinical mental symptoms and biochemical parameters of acute intermittent porphyria. The case records of 344 consecutive patients admitted to the Porphyrias Research Group in the Western Infirmary in Glasgow between 1950 and 1988 with acute intermittent porphyria were examined for evidence of psychiatric contact. Of 16 individuals identified, 12 were available for the study. Forty relatives of these 12 probands, including 9 who were asymptomatic carriers of AIP, were interviewed for lifetime history of mental illness and current symptoms. Comparisons were made between 4 groups of patients based on urinary porphyrin levels and erythrocyte enzyme activity; 1) manifest acute intermittent porphyria, 2) latent acute intermittent porphyria, 3) normal relatives and 4) total acute intermittent porphyria (latent and manifest combined). No association was found between AIP and schizophrenia or manic-depressive illness. Only one patient with schizophrenia was found in the sample of 344 case notes, and in 2 families bipolar illness was found but did not segregate with acute intermittent porphyria. The commonest psychiatric diagnosis in patients was generalized anxiety. In the total AIP group (latent and manifest), compared with normals, the rating scale measures of anxiety were significantly correlated with the level of porphyrin metabolites in the urine at the time of rating. This was true even in subjects with latent AIP, who were not at the time of testing aware that they were asymptomatic carriers of the illness. AIP should be considered in the differential diagnosis of generalized anxiety disorder.     

Ph-negative T cells in a patient with chronic myelogenous leukemia for twenty-eight years

The frequency of metaphases without a Philadelphia chromosome was determined in mitogen-stimulated cultures of peripheral blood mononuclear cells (PBMC) and purified T lymphocytes (93% CD2-positive) from a patient with chronic myelogenous leukemia (CML) for 28 years. The PBMC cultures contained few Ph-negative cells (8%), but they constituted 92% of the metaphases in T cell cultures, indicating few if any Ph-positive T cells in the patient's circulation. The results demonstrate that T cells derived from the leukemic clone may fail to replace the non-neoplastic population even when CML arises in childhood and the patient survives for many years. This raises questions concerning the normal role of the bone marrow as a source of T cells after infancy, and also whether Ph-positive lymphocytes may be at a disadvantage for growth.     

Glutamic acid decarboxylase-like immunoreactivity in brainstem auditory nuclei of the rat

The distribution of GABA-producing neurons in the brainstem auditory nuclei of the rat was investigated immunohistochemically by using an antibody to glutamic acid decarboxylase (GAD). In the cochlear nuclei, GAD immunoreactive neurons are present only in the superficial granular and molecular layers, whereas terminals are found in all subdivisions of the nuclei and are particularly dense surrounding large spherical cells and one type of stellate cell. In the superior olivary complex, GAD immunoreactive neurons are located in the lateral olivary nucleus and throughout the periolivary region. Immunoreactive terminals are distributed along dendrites of principal cells of the medial and lateral olivary nuclei and are clustered around somata of globular neurons of the nucleus of the trapezoid body. An extremely dense band of immunoreactive somata and terminals is present along the ventral edge of the olivary complex. The ventral, intermediate, and dorsal nuclei of the lateral lemniscus contain small fusiform GAD-immunoreactive neurons and a moderately dense plexus of immunoreactive terminals. The inferior colliculus contains a large population of GAD-immunoreactive perikarya and an extremely dense accumulation of immunoreactive terminals in the central, dorsomedial, and external nuclei. These observations indicate that GABA systems are involved in function at all levels of the brainstem auditory pathway.     

A continuous sampler with background suppression for monitoring alpha-emitting aerosol particles.

A continuous air monitor has been developed that includes provisions for improving the detection of alpha-emitting aerosol particles in the presence of radon/thoron progeny that are unattached to ambient aerosol particles. Wind tunnel tests show that 80% of 10-microns aerodynamic equivalent diameter particles penetrate the flow system from the ambient air to the collection filter when the flow rate is 57 L min-1 (2 cfm) and the wind speed is 1 m s-1. Uniformity of aerosol collection on the filter, as characterized by the coefficient of variation of the areal density deposits, is less than 15% for 10-microns aerodynamic-equivalent-diameter aerosol particles. Tests with unattached radon daughters in a flow-through chamber showed that approximately 99% of the 218Po was removed by an inlet screen that is designed to collect radon daughters that are in the size range of molecular clusters. The inlet screen offers the opportunity to improve the signal-to-noise ratio of energy spectra in the regions of interest (subranges of the energy spectrum) of transuranic elements and thereby enhance the performance of background compensation algorithms.     

Adolescents and Substance Abuse Testing: Consideration of treatment models

Substance abuse testing and treatment programs for adolescents using drugs are receiving increased attention on high school campuses. Many policymakers question drug testing and the treatment models for adolescent substance abusers. This paper explores the impact of drug testing. Treatment models and approaches for substance abuse are presented. It is recommended that treatment counselors explore drug testing in relationship to treatment models for substance use. We advise counselors to consider comprehensive programs for adolescents based on their belief systems and values assigned to moral, medical and social models of treatment.     

An epidemiologic study of smoking and primary infertility in women.

OBJECTIVE: To determine the relationship between cigarette smoking and primary female infertility. DESIGN: Retrospective, case-control study. SETTING: Population-based and randomly selected from eight geographic areas in the United States. PARTICIPANTS: Women, 20 to 54 years of age, who were randomly selected to serve as the control group of the Cancer and Steroid Hormone Study were used for this study. Within this group, there were 483 women who were classified as having experienced primary infertility and 2,231 women eligible to serve as controls. Primary infertility, defined as 24 consecutive months of unprotected intercourse without conception, was documented from a calendar of each women's reproductive and contraceptive history. RESULTS: Smoking one pack of cigarettes per day (odds ratio = 1.36) and starting to smoke before 18 years of age (odds ratio = 1.30) were significantly associated with increased risk of infertility. Life table and proportional hazards analysis indicated that smoking did not significantly increase the time required to conceive among infertile women. CONCLUSIONS: Number of cigarettes smoked and age when the women began smoking contributed to infertility in this study. It is reasonable, therefore, to recommend that women stop smoking when they are attempting to become pregnant.