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PubMed2004

Acquired reactive perforating collagenosis in a patient with lung fibrosis.

Reactive perforating collagenosis (RPC) is a rare disorder characterized by the transepidermal elimination of altered collagen. The inherited form of RPC begins in early childhood, but acquired reactive perforating collagenosis (ARPC) begins in adult life. ARPC is associated with diabetes mellitus, renal disease, and malignancy. ARPC with lung fibrosis has not previously been reported in the literature, and the relationship between ARPC and lung fibrosis has not been studied. The etiological relationship between the two disorders appears to be uncertain. Although their association in this case could be due to chance, it may be due to the transforming growth factor beta abnormalities seen in both diseases. In this report, we describe a case of ARPC with lung fibrosis and propose an etiological association between the two diseases.

Collagen↗
PubMed1999

Timing of puberty and syndromes of schizotypy: a replication.

The view of schizophrenia as a neurodevelopmental disorder involving an abnormality in the programmed elimination of excitatory synapses during puberty has been supported by recent neuroimaging studies suggesting disordered functional connectivity in schizophrenia. We investigated a model predicting dysfunctionally high or low synaptic density in extreme early or late maturers at puberty, respectively (Saugstad, L.F., 1989. Clin. Genet. 36, 156-167; Saugstad, L.F., 1994. Int. J. Psychophysiol. 18, 189-203). In an earlier study (Gruzelier, J.H., Kaiser, J., 1996. Schizophr. Res. 21, 183-194), we found increased psychosis proneness scores in both extremes of the pubertal timing spectrum in the normal population. Here we present a replication study where N = 100 healthy adults completed a retrospective pubertal timing scale and the 'Personality Syndrome Questionnaire' measuring schizotypy syndromes. The following relationships were replicated: (1) elevated scores on scales of the total Unreality syndrome and the Ideas of Reference subscale in both maturation extremes; and (2) a trend for a positive correlation between the Withdrawal scale and the composite maturation score in males. Cognitive Unreality and Suspiciousness were higher in early than late maturing females. Social Anxiety was elevated in female extreme maturers compared with average maturers, but the opposite was found for males, where average maturers had higher scores than early or late maturers. Active syndrome findings were confined to the male subsample with late maturing males showing higher scores on the Cognitive Failures and Odd Speech subscales than early maturers. As in the previous study, there was no relationship between a global psychosis proneness scale and maturational rate. These findings support a neurodevelopmental model of psychosis-proneness and show the importance of adopting a syndromal view.

Adult↗
PubMed1983

EMG and EEG biofeedback training in the treatment of a 10-year-old hyperactive boy with a developmental reading disorder.

The serial application of electromyographic (EMG) and sensorimotor (SMR) biofeedback training was attempted with a 10-year-old boy presenting a triad of symptoms: an attention deficit disorder with hyperactivity, developmental reading disorder, and ocular instability. Symptom elimination was achieved, for all three aspects of the triad, following the procedure of first conditioning a decrease in EMG-monitored muscle tension and then conditioning increases in the amplitude of sensorimotor rhythm over the Rolandic cortex. The learned reduction of monitored EMG levels was accompanied by a reduction in the child's motoric activity level to below that which had been achieved by past administration of Ritalin. In addition, the attention deficit disorder with hyperactivity was no longer diagnosable following the EMG biofeedback training. The learned increase in the amplitude of monitored SMR was accompanied by remediation of the developmental reading disorder and the ocular instability. These results remained unchanged, as ascertained by follow-ups conducted over a 24-month period subsequent to the termination of biofeedback training.

Attention↗
PubMed1996

Cyclosporine therapy for acquired factor VIII inhibitor in a patient with systemic lupus erythematosus.

The case of a 27-year-old woman with systemic lupus erythematosus and development of an autoantibody against factor VIII during an exacerbation of her underlying disorder is described. Attempts to eliminate the antibody with high dose gammaglobulin and repeated courses of cyclophosphamide failed, whereafter she received cyclosporine in increasing doses. When therapeutic serum levels of cyclosporine were achieved (150-350 ng/ml) the inhibitor rapidly decreased and disappeared with a concomitant normalization of the factor VIII levels. Treatment with cyclosporine was subsequently reduced and discontinued after one year, and at present no inhibitor is detectable. In view of the successful results with cyclosporine treatment in 4 of 6 previous cases and in all 3 previous cases with autoimmune disorders, this regimen should be evaluated in a systematic manner as a potential first line drug in patients with acquired hemophilia and an underlying autoimmune disorder.

Adult↗
PubMed2004

Complexities in psychiatric genetics.

A substantial contribution of genetic factors to the risk of psychiatric disorders such as schizophrenia, bipolar disorder, autism, and drug and alcohol dependence has already been established. However, the familial transmission of these disorders cannot be explained by simple Mendelian models of inheritance, and non-genetic factors must also play a substantial role in their etiologies. Furthermore, the prevalence of any major psychiatric disorder is a great deal higher than that of Mendelian disorders. It has been suggested that evolutionary forces would rapidly eliminate large gene effects, which would suggest that mental disorders, which are highly prevalent, are associated with minor gene effects (Risch, 1994). The current paradigm is that genes with small interacting genetic effects, in conjunction with environmental factors, affect the risk for psychiatric disease. New laboratory and statistical methodology and database tools, and the availability of large clinical samples for the study of linkage and association sustain optimism that genes involved with these diseases will be characterized in the near future. This accomplishment should in turn lead not only to a better understanding of the primary molecular pathophysiology and to more specific and effective therapies, but also to a better understanding of non-genetic risk factors that could be targets for preventive strategies.

Alleles↗
PubMed1982

Periodic breathing and the pathogenesis of occlusive sleep apneas.

In order to study the relationship between sleep-induced periodic breathing and the development of occlusive sleep apneas, 6 patients with hypersomnia-sleep apnea syndrome were studied during nocturnal sleep before and approximately 1 month after therapeutic tracheostomy. Post-tracheostomy studies were performed in open and closed tracheostomy states. Sleep-induced periodic breathing resembling the pattern of Cheyne-Stokes breathing was observed in all patients before and after tracheostomy, even when tracheostomy was left open. When tracheostomy was closed all patients developed periodic hypopneas with significant oxygen desaturation, and 4 patients developed occlusive apneas at the nadir of the periodic changes. However, apnea and desaturation indexes during closed tracheostomy were significantly lower than their respective pretracheostomy values. These results indicate that sleep-induced periodic breathing, which represents an instability of respiratory control, is primary to the development of occlusive apneas, and the periodically observed is exaggerated by hypoxemia. Comparison of pre- and post-tracheostomy studies indicate a significant improvement in the underlying disorder most likely caused by the elimination of nocturnal hypoxemia and sleep fragmentation.

Cheyne-Stokes Respiration↗
PubMed2001

Iodine deficiency in the world: where do we stand at the turn of the century?

Iodine deficiency is the leading cause of preventable mental retardation. Universal salt iodization (USI), calling for all salt used in agriculture, food processing, catering and household to be iodized, is the agreed strategy for achieving iodine sufficiency. This article reviews published information on programs for the sustainable elimination of the iodine deficiency disorders and reports new data on monitoring and impact of salt iodization programs at the population level. Currently, 68% of households from areas of the world with previous iodine deficiency have access to iodized salt, compared to less than 10% a decade ago. This great achievement, a public health success unprecedented in the field of noncommunicable diseases, must be better recognized by the health sector, including thyroidologists. On the other hand, the managers and sponsors of programs of iodized salt must appreciate the continuing need for greatly improved monitoring and quality control. For example, partnership evaluation of iodine nutrition using the ThyroMobil model in 35,223 schoolchildren at 378 sites of 28 countries has shown that many previously iodine deficient parts of the world now have median urinary iodine concentrations well above 300 microg/L, which is excessive and carries the risk of adverse health consequences. The elimination of iodine deficiency is within reach but major additional efforts are required to cover the whole population at risk and to ensure quality control and sustainability.

Female↗
PubMed1991

Dorsal rhizotomy for children with cerebral palsy: support for concepts of motor control.

The results from selective dorsal rhizotomy research suggest that therapists need to question some common clinical assumptions about movement dysfunction. The rationale for performing a selective dorsal rhizotomy is based on the clinical assumptions that spasticity is the underlying cause of disordered movement and that reducing or eliminating the spasticity will improve movement. This article reviews the literature related to movement dysfunction, the effects of selective dorsal rhizotomy, and the evidence for disordered motor control in children with spastic cerebral palsy. Selective dorsal rhizotomy appears to reduce spasticity and increase joint range of motion. Abnormal movement patterns, however, persist after the spasticity is reduced. Well-coordinated movement patterns are acquired slowly and appear to be related to an intense period of physical therapy. I argue that these results provide evidence that the presence of spasticity alone is an insufficient explanation for abnormal movement patterns. I propose that physical therapists redirect their efforts from developing methods for reducing spasticity to developing adequate assessment, treatment, and measurement techniques for assessing motor control in children with cerebral palsy. I believe we can maximize the functional potential of children with cerebral palsy by identifying problems related to motor control and applying sound principles of motor learning to treatment.

Cerebral Palsy↗
PubMed1995

Familial paroxysmal kinesigenic choreo-athetosis in a child with visual hallucinations and obsessive-compulsive behaviour.

A teenage male is described, in whom Tourette Syndrome was suspected, which was later replaced by attacks of paroxysmal kinesigenic choreo-athetosis. He also exhibited bizarre, episodic perceptual distortions of his visual environment and manifestations of an obsessive-compulsive disorder. Carbamazepine treatment not only completely eliminated the recurring attacks of his choreo-athetosis but also, contrary to expectations, the visual disturbances and even the symptoms of his obsessive-compulsive disorder. Obsessive compulsive disorder should be searched for by direct questioning in all patients with basal ganglia disorders.

Adolescent↗
PubMed1994

Psychopathy: traditional and clinical antisocial concepts.

Advances in our knowledge about the concept of psychopathy and the repeated occurrence of antisocial behaviors in the face of adversity and punishment have been limited by a complex interplay of conceptual and methodological issues that have not yet been addressed adequately by psychosocial scientists. Foremost among the problems facing clinicians and researchers interested in this topic is the lack of agreement on the meaning and labelling of the construct. Scholars have not reached consensus in describing a category within a diagnostic system that distinguishes a relatively homogeneous group of individuals sharing a set of characteristics, or a class of persons that can be identified reliably from those who exhibit other perhaps closely related behavioral abnormalities and so-called normal individuals. Disagreements about the construct in question have been sufficiently problematic that some researchers and clinicians have decided that the notion of psychopathy or APD, taken to represent a mental disorder, is simply a myth or a judgment label concocted to justify societal management of offensive and repugnant behaviors (cf., Blackburn, 1988; Lewis & Balla, 1975; Pilgrim, 1987). Scholars such as Holmes (1991) and Wulach (1983) have called for elimination of the category as a mental disorder diagnosis, because it offers an opportunity for making value assessments rather than clinically appropriate decisions. Few disorders described in our psychopathology nomenclature are associated with such markedly negative attributions as is psychopathy, whether defined in the American or British traditions. The logical underpinning of much work in the field equates psychopathy or APD with heinous forms of criminality, lifestyle criminality, and special cases of antisocial behavior. In keeping with tendencies for society to conceptualize psychopathy as extreme misbehavior and to decry its consequences is a paper by Wells (1988), which exemplifies the emotion-focused thought and rhetoric that have been mobilized in writings explaining the behaviors that are often subsumed under the psychopathy label. Given that this type of persuasion is more common than might be expected in an empirical literature, it is not surprising that some scholars have concluded that the term psychopathy is really relatively useless. On the other hand, the appeal of the realist approach to disease conceptualization, or the notion that such a disorder exists and therefore must have underlying causes, has defied elimination over the years.(ABSTRACT TRUNCATED AT 400 WORDS)

Adolescent↗
PubMed1989

Proper positioning eliminates patient injury.

1. Pre-existing disorders such as poor nutritional state, diabetes, respiratory disorders arthritis, and cardiac status compound the effects of positioning. 2. Under anesthesia, the patient may be placed in a potentially injurious position that he could protect himself against otherwise. 3. Position influences respiration by mechanical restriction of the ribs and sternum, and by reduced ability of the diaphragm to push down against the abdominal contents. 4. Informed involvement of the operating room nurse will minimize risk to the patient who is defenseless under anesthesia.

Humans↗
PubMedDate not supplied

Pemoline pharmacokinetics and long term therapy in children with attention deficit disorder and hyperactivity.

The pharmacokinetic behaviour of pemoline was studied in 28 children, aged 5 to 12 years, diagnosed as having the attention deficit disorder with hyperactivity. The mean elimination half-life of pemoline in these children was approximately 7 hours, which is considerably shorter than the half-life of 11 to 13 hours previously reported in adults. The tendency of the half-life to increase with age may be explained by the statistically significant decrease in total body clearance with age. The increasing half-life of pemoline with age should be considered during long term drug therapy. In this study no tolerance to the beneficial effects of pemoline was observed over 6 months. The apparent therapeutic serum concentration range for these children was attained after doses of 37.5 to 131.25 mg pemoline daily. Since the optimum serum concentration shows wide variation, the dosing regimen must be determined individually. Routine monitoring of the pemoline serum concentrations is not useful because of this apparent variation in optimum serum concentration and because of the linear relationship between dose and concentration.

Aging↗