Validity of plasma factor in schizophrenia as measured by tryptophan uptake.

The uptake of L-tryptophan by chicken erythrocytes is stimulated by the presence of human plasma; however, there is no difference between the stimulation caused by plasmas of normal, chronic hospitalized nonschizophrenic, or chronic hospitalized schizophrenic subjects. Human plasma in general contains a complement-dependent antibody which reacts with an antigen present in the membrane of chicken erythrocytes resulting in hemolysis. Hemolysis can be maintained at a constant level by certain concentrations of Ca++ ion, the addition of which resulted in a gradual increase in tryptophan uptake. The calcium effect is probably due to the fact that the metal acts as a cofactor or modifier of component(s) of plasma causing higher uptake. The data indicate that hemolysis is not determining uptake of tryptophan by chicken erythrocytes.

Mortality ratios and life expectancy in X chromatin positive males.

In a prospective study of 466 X chromatin positive males an increase in mortality of about 50% has been observed. The increase is associated with a loss of about five years in life span. There is no convincing evidence that the increase is concentrated at any particular age group but this possibility could not be excluded. No effect of mode of ascertainment could be demonstrated. From this study we conclude that it is likely that the mortality experienced by chromatin positive males in general is at least 115% of that experienced by normal men and could be more than 200%.

Mortality and causes of death in females with extra X chromosomes and males with extra Y chromosomes.

A prospective study of mortality in females with extra X chromosomes and males with extra Y chromosomes is reported. Among the 94 females who survived infancy and were then observed on average for 16 years there were 24 deaths compared with an expected mortality of 10.7. The greater than twofold increase is highly significant (p less than 0.005). The deaths were due to a variety of diseases but no significant increase from any single cause could be identified. Among 136 males with extra Y chromosomes observed on average for 12 years there were 10 deaths. This number is not significantly greater than the expected 6.4. No increase in mortality from a single cause was observed.

Causes of death in X chromatin positive males (Klinefelter's syndrome).

The causes of death in 466 X chromatin positive males (Klinefelter's syndrome) studied prospectively over the last 25 years have been analysed. We have previously reported the overall mortality to be increased by 50% and life expectancy reduced by about five years. A highly significant increase in mortality from cerebrovascular disease was observed in the sub group considered to be most representative of X chromatin positive males in general. In the age group up to 45 years this increase could be attributed to deaths from subarachnoid haemorrhage. An increase in mortality from respiratory diseases was observed in those ascertained in psychiatric hospitals. In the sample as a whole there were small but highly significant numbers of deaths from carcinoma of the breast and aortic valve disease. The deaths from carcinoma of the breast were comparable with those expected if female mortality rates were applied.

Mortality ratios, life expectancy, and causes of death in patients with Turner's syndrome.

In a prospective study of 156 female patients with Turner's syndrome who had survived infancy and been followed up for an average of 17 years there were 15 deaths. The expected mortality was 3.6. Sixteen of the patients had a congenital heart anomaly and five of the deaths occurred in this group. The 10 deaths in the remaining 140 were three times as many as expected. The reduction in life expectation was 12.5 years at age 1 year, 11 years at age 20, and 10 years at age 40. Deaths were due to a broad spectrum of diseases. In the sample as a whole there were eight deaths from diseases of the circulatory system. This number is significantly greater than expected, but four were due to congenital heart disease. When patients with congenital heart disease were omitted from the sample the mortality from circulatory disorders was not significantly increased. Within the category of circulatory disorders there were three deaths from dissection of the aorta, a number which is greatly in excess of the expected. Two of these patients had no previous evidence of heart disease.

Case report: MRI appearances of left sided Morgagni hernia containing liver.

Morgagni hernias most commonly present in infancy or childhood with gastrointestinal or respiratory symptoms, resulting from visceral herniation into the thorax. They are much rarer in the adult, and may be misdiagnosed as pericardial masses. We report a case of a Morgagni hernia containing liver, which hindered cardiac imaging with echocardiography and angiography, and was best demonstrated with MRI.

A high incidence of chronic inflammatory bowel disease in patients with Turner's syndrome.

Four new cases of chronic inflammatory bowel disease in a series of 135 adult patients with Turner's syndrome observed over an average period of 11 years are reported. The diagnosis in 2 of the patients was ulcerative colitis; the other 2 had clinical and histological features consistent with a diagnosis of Crohn's disease. The incidence is considerably higher than any reported frequency of new cases of inflammatory bowel disease in the general population. Previously reported cases are described and attention is drawn to the severity of the bowel disorder. An apparent association with a karyotype abnormality which includes a structurally abnormal X chromosome is noted.

The prevalence of psychiatric disorder among female new referrals to a migraine clinic.

In a consecutive series of 46 female new referrals to a migraine clinic, 17 patients (37%) complained of increased irritability and/or depression in association with more than 50% of their migraine attacks. This was not related to the attack frequency or duration. Sixteen patients (33%) met DSM-III criteria for a current diagnosis of an affective syndrome and when present this was significantly associated with these complaints.

Partial anomalous pulmonary venous drainage in two patients with Turner's syndrome.

We report two cases of partial anomalous pulmonary venous drainage in a series of 135 patients with Turner's syndrome.

The vectorcardiogram in subjects with sex chromosome aneuploidy.

Vectorcardiographic variables have been studied in patients with sex chromosome abnormalities and compared with normal controls. Several of these variables were found to be correlated with the number of sex chromosomes in the karyotype, some being related to the number of X chromosomes, some to the number of Y chromosomes, and others to both. The variables concerned included time intervals and vector magnitudes in both the QRS and ST-T wave complexes. The heart rate itself proved dependent on both the X and the Y chromosome complements. The correlations could not be explained by age, height, or weight differences between the seven different karyotype groups studied. The dependences of variables other than the heart rate remained after correction for between-group heart rate differences. The findings are discussed.

Venous thromboembolic disease in Klinefelter's syndrome.

In a series of 412 patients with Klinefelter's syndrome observed over periods ranging from 1 to 20 years, the frequency of hypostatic ulceration, deep vein thrombosis and pulmonary embolism was found to be raised. The prevalence of past or present hypostatic ulceration was 6%, which is 20-50 times higher than in the general population. The incidence of deep vein thrombosis in subjects aged between 30 and 70 years was 22.8 cases per 10,000 patient-years at risk. In community studies the incidence of this condition is around 4 new cases per 10,000 men per year. The frequency of pulmonary embolism was 16 cases per 10,000 patient-years at risk, compared with an expected figure of 0.9 to 3 cases per 10,000 men per year.