Linkage studies of bipolar disorder in the region of the Darier's disease gene on chromosome 12q23-24.1.

We have recently described a family in which there is cosegregation of major affective disorder with Darier's disease and have mapped this autosomal dominant skin disorder to 12q23-q24.1. This has provided an interesting candidate region for genetic studies of bipolar disorder.

Percutaneous lumbar discectomy. Preoperative and postoperative magnetic resonance imaging.

We evaluated magnetic resonance imaging studies of thirty patients before and after a contained herniation of a lumbar disc was treated with a percutaneous lumbar discectomy. The imaging studies were evaluated to determine whether the preoperative appearance of the herniated disc was predictive of the outcome of percutaneous discectomy and also to determine a possible mechanism of action of the procedure in the relief of symptoms. The index operation was successful in seventeen (57 per cent) of the thirty patients.

Cytochrome P4502D6 genotype does not determine response to clozapine.

1. The atypical antipsychotic drug clozapine, used in the treatment of resistant schizophrenia, is metabolized partly by the hepatic cytochrome P450 enzyme CYP2D6. Two phenotypes with respect to the activity of the enzyme are recognized (extensive metabolisers (EM) and poor metabolisers (PM)), resulting from allelic variation in the gene, CYP2D6.

Genetic association between alleles of pancreatic phospholipase A2 gene and bipolar affective disorder.

Chromosome 12q is a region of interest for the genetics of bipolar affective disorder because of reports of apparent cosegregation between this disorder and Darier's disease in a small number of families. Findings from a recent linkage study suggest that this chromosomal region may contain a susceptibility gene for bipolar affective disorder. We have found evidence of an allelic association between bipolar disorder and a marker at the pancreatic phospholipase A2 gene (PLA2A) in this region (p < or = 0.

Somatosensory evoked potential spinal cord monitoring reduces neurologic deficits after scoliosis surgery: results of a large multicenter survey.

Neurologic deficits were compared to somatosensory evoked potential (SEP) spinal cord monitoring in a survey of spinal orthopedic surgeons. Experienced SEP spinal cord monitoring teams had fewer than one-half as many neurologic deficits per 100 cases compared to teams with relatively little monitoring experience. Experienced SEP monitoring teams also had fewer neurologic deficits than were seen in previous surveys of this group.

Zinc and copper levels in premenstrual syndrome.

Objective: To determine whether changes in peripheral zinc and copper levels are associated with symptoms of premenstrual syndrome (PMS).

Design: Ten PMS patients and 10 controls gave blood at 2- or 3-day intervals through three menstrual cycles. Serum zinc and copper were measured by flameless atomic absorption spectrophotometry.

Hyponatremia and syndrome of inappropriate antidiuretic hormone secretion in adult spinal surgery.

Study Design: Patients undergoing spinal surgery were monitored for sodium balance, fluid type, and volume input and output during surgery and for the first 3 postoperative days.

Objective: To prospectively document the true incidence of the syndrome of inappropriate antidiuretic hormone secretion and hyponatremia, and identify risk and protective factors for the development of the syndrome of inappropriate antidiuretic hormone secretion after spinal surgery.

Methods: Data on medical history, surgical procedure, estimated blood loss, and volumes and types of intraoperative and postoperative fluids were collected on 116 consecutive spinal surgery patients during March to July 1992.

Genetic mapping of 14 short tandem repeat polymorphisms on human chromosome 22.

We have constructed a linkage map of 14 short tandem repeat polymorphisms (11 with heterozygosity > 70%) on the long arm of human chromosome 22 using 23 non-CEPH pedigrees. Twelve of the markers could be positioned uniquely with a likelihood of at least 1,000:1, and distributed at an average distance of 6.62 cM (range 1.

Professional misconduct in psychiatry: sexual behaviour with patients. A report of recent New South Wales findings.

In the period 1989-1991 the Medical Tribunal in the state of New South Wales conducted enquiries into seven complaints about professional misconduct of a sexual nature incidental to psychiatric treatment. This study is submitted in the interests of patients, profession and public in accordance with the ethos of the Medical Practitioners Act (NSW). It is based on personal observations and published legal documents and refers to the legal context and procedures.

An association study of debrisoquine hydroxylase (CYP2D6) polymorphisms in schizophrenia.

The cytochrome P450 mono-oxygenases are a group of enzymes that metabolize a variety of exogenous and endogenous compounds, some of which are potentially toxic. Individual variations in the metabolism of potential toxins could influence susceptibility to disorders having genetic and environmental components, such as schizophrenia. The frequency of two common mutant alleles of the gene for the cytochrome P450 enzyme debrisoquine-4-hydroxylase (CYP2D6) was determined in 264 Caucasian schizophrenic patients and 217 controls, using the polymerase chain reaction and restriction enzyme digestions.

The gene for Darier's disease maps to chromosome 12q23-q24.1.

Darier's disease is a rare autosomal dominant skin disorder in which there is abnormal adhesion between keratinocytes. It appears to be associated with an increased prevalence of neuropsychiatric disorders including mental retardation and epilepsy. In addition we have previously reported a family in which major affective disorder cosegregates with Darier's disease.

A continuous linkage map of 22 short tandem repeat polymorphisms on human chromosome 12.

A continuous linkage map consisting of 22 short tandem repeat polymorphisms has been constructed for human chromosome 12 using 23 non-CEPH pedigrees. The markers were distributed at an average distance of 9.35 cM (3.

Lumbar spine following successful surgical discectomy. Magnetic resonance imaging features and implications.

In an attempt to determine the expected long-term appearance of the lumbar spine in patients who have undergone successful lumbar discectomy, follow-up magnetic resonance (MR) examinations were performed on 23 patients (26 levels). All patients in the study had undergone at surgery at least one year prior to the study. All patients met rigorous criteria for a successful outcome.

Optoelectronic evaluation of trunk deformity in scoliosis.

In this study, truncal deformity in patients with scoliosis was evaluated by circumferential scanning using an optoelectronic device (Optronic Torsograph, Anima Corp., Tokyo, Japan). This device generates cross-sectional skin surface topography at 10 axial levels to provide a three-dimensional representation of truncal shape.

Intertransverse process lumbar arthrodesis with allogeneic fresh-frozen bone graft.

Nine patients were treated with ten intertransverse process lumbar spine anthrodeses using fresh-frozen crushed corticocancellous allogeneic bone as graft material. No instrumentation was used. The clinical and roentgenographic follow-up period ranged from one to three years.

Effect of ascorbic acid supplementation on the sperm quality of smokers.

Objective: To determine the effect of ascorbic acid supplementation on the sperm quality of heavy smokers.

Design: Microscopic examination of semen for 1 month during supplementation with placebo or ascorbic acid at dose levels of 200 or 1,000 mg/d.

Setting: Department of Obstetrics and Gynecology, The University of Texas Medical Branch.

Utility of internal markers to improve the accuracy of cystic fibrosis genotype analysis.

DNA diagnostic tests often utilize restriction endonuclease digestion of PCR-amplified portions of genes under analysis. When partial digestion occurs, the resulting patterns may lead to error in diagnosis. To overcome such potential errors in cystic fibrosis testing, we have developed internal markers that can increase the precision and reliability of genotype assignments.

Spinal cord monitoring. Results of the Scoliosis Research Society and the European Spinal Deformity Society survey.

The Scoliosis Research Society (SRS) and the European Spinal Deformity Society (ESDS) membership was surveyed regarding the use of intraoperative monitoring of somatosensory evoked potentials in spinal surgery. A total of 242 people responded, with 188 using intraoperative monitoring. A second survey was distributed detailing the technical aspects of monitoring, of which 71 were returned.

Vitamin E levels in premenstrual syndrome.

To determine whether changes in peripheral vitamin E levels are associated with symptoms of premenstrual syndrome, 10 patients with premenstrual syndrome and 10 control subjects were studied. They gave blood at 2- or 3-day intervals throughout three menstrual cycles. The vitamin E was measured by fluorometry after hexane extraction and luteinizing hormone was measured by radioimmunoassay.

Health care administrator: heal thy organizational self.

Many problems in today's group practice marketplace exist because organizations are confused about what constitutes the "business" side of health care in relationship to its philanthropic past. Eugene Dawson Jr., Ph.