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Biomedical subjects

S A Rasmussen

Publications and source records attributed to S A Rasmussen.

At least 55 records · Page 3Linked to original sources
PubMed1996

Descriptive epidemiology of holoprosencephaly and arhinencephaly in metropolitan Atlanta, 1968-1992.

We report the descriptive epidemiology of holoprosencephaly and arhinencephaly using data from the Metropolitan Atlanta Congenital Defects Program, a population-based birth defects surveillance system with multiple sources of ascertainment. From 1968-1992, we ascertained 63 cases of holoprosencephaly and arhinencephaly from approximately 734,000 births, for a birth prevalence of 0.86 per 10,000. Thirteen case infants with holoprosencephaly and four case infants with arhinencephaly were categorized as having syndromes. Of the case infants with non-syndromic holoprosencephaly, 55% had malformations not attributable to the underlying brain defect. The rate of holoprosencephaly and arhinencephaly increased from 0.58 per 10,000 during 1968-1972 to 1.2 per 10,000 during 1988-1992 (P for trend = 0.016). Rates were higher for females than for males (risk ratio = 1.45, 95% C.I. 0.88-2.41) and higher for nonwhites than for whites (risk ratio = 1.74, 95% C.I. 1.06-2.86). There was a U-shaped distribution of risk associated with maternal age with a slightly increased risk for younger women (risk ratio for maternal age < 20 years, compared with age 25-29 years = 1.68, 95% C.I. 0.77-3.62) and older women (risk ratio for maternal age > 34 years, compared with age 25-29 years = 2.30, 95% C.I. 0.93-5.7), but this was not statistically significant. The increased risk in the older age group could be largely explained by the presence of cases with autosomal trisomies. Neonatal mortality was higher for infants with malformations that were not attributable to the underlying brain defect and for infants with syndromes than for infants with isolated holoprosencephaly. This analysis is the first population-based study with long-term data on this rare defect. Further epidemiologic studies will be necessary to assess the risk factors for holo-prosencephaly and arhinencephaly.

Abnormalities, Multiple↗
PubMed1996

Juvenile rheumatoid arthritis in velo-cardio-facial syndrome: coincidence or unusual complication?

We report on two patients with velo-cardio-facial syndrome (VCFS) and juvenile rheumatoid arthritis (JRA). The first, a 9-year-old girl, presented with microcephaly, characteristic face, congenital heart disease, and velopharyngeal insufficiency. Fluorescence in situ hybridization (FISH) study showed deletion of D22S75 (N25), confirming the diagnosis of VCFS. At age 7, she developed joint pain, and polyarticular JRA was diagnosed. Awareness of this case led to the subsequent diagnosis of VCFS (also confirmed by FISH) in another, unrelated 12-year-old girl with characteristic face, hypernasal speech, and obesity. JRA was first diagnosed in this case at age 5 years, and she subsequently developed severe polyarticular disease. Neither patient had clinical or laboratory evidence of immunodeficiency. This observation represents the first report of the association of JRA with VCFS and raises the question of whether this is a coincidental association or a rare complication of this condition.

Arthritis, Juvenile↗
PubMed1996

Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis.

The osteochondrodysplasias (skeletal dysplasias) are a heterogeneous group of disorders characterized by abnormalities in cartilage and bone growth and development. Some of these disorders are detectable during the second trimester by sonographic techniques. We ascertained cases of osteochondrodysplasias in elective pregnancy terminations, stillborn infants older than 20 gestational weeks, and liveborn infants diagnosed by the fifth day of life as part of an ongoing active malformation surveillance program. Forty-nine cases of osteochondrodysplasias were identified among approximately 126,000 deliveries at Brigham and Women's Hospital (BWH) during a 15-year period (Feb. 16, 1972-Feb. 15, 1975; Jan. 1, 1979-Dec. 31, 1990). When cases delivered to women who had planned to deliver at another hospital but were transferred for high-risk care (transfers) were excluded, the prevalence rate was 2.14 cases per 10,000 deliveries. During the early period (1972-1975) no cases were suspected prenatally, while during the 1988-1990 period, 80% of all cases and 57% of cases delivered to women who had always planned to deliver at BWH (non-transfers) were suspected by ultrasonography. Birth status changed through our period of surveillance. In the final 3-year period (1988-1990), 40% of all cases and 29% of non-transfers with osteochondrodysplasias were pregnancy terminations, compared to none during the 1972-1975 period. The increasing frequency of pregnancy terminations complicated the diagnosis of these conditions. Despite extensive evaluation, a definitive diagnosis was not possible in 8 of 49 cases (16%). Biochemical and molecular genetic methods of diagnosis will continue to become more important if the current trend of wide utilization of prenatal sonography and termination of affected pregnancies continues.

Abortion, Induced↗
PubMed1996

Fluvoxamine versus clomipramine for obsessive-compulsive disorder: a double-blind comparison.

The efficacy and tolerability of fluvoxamine (100-300 mg/day) and clomipramine (100-250 mg/day) were compared in a randomized, double-blind, parallel-group study of 79 patients with obsessive-compulsive disorder (OCD) without coexisting major depression. After a 2-week placebo lead-in period, patients were randomized to fluvoxamine (37 patients) or clomipramine (42 patients) for 10 weeks. Efficacy was evaluated with the Yale-Brown Obsessive-Compulsive Scale (Y-BOCS), the National Institute of Mental Health Obsessive-Compulsive scale, and Patient and Clinical Global Improvement scales. Hamilton Rating Scale for Depression scores and somatic symptoms were also assessed. Seventy-eight percent of fluvoxamine patients and 64% of clomipramine patients completed the study. At the end of treatment, 56% of fluvoxamine patients were classified as responders (> or = 25% decrease in Y-BOCS score), compared with 54% of clomipramine patients. Both groups showed steady improvement throughout the study; no statistically significant differences were observed between the groups for any efficacy variable at any time. A similar percentage of patients in both groups withdrew because of adverse events. No serious adverse events related to drug occurred with either drug. Insomnia, nervousness, and dyspepsia were more statistically frequent with fluvoxamine; dry mouth and postural hypotension were more frequent with clomipramine. In this study, fluvoxamine and clomipramine were equally effective in reducing OCD symptoms over a 10-week treatment period but displayed different side effect profiles.

Adolescent↗
PubMed1996

Somatic mosaicism in a patient with neurofibromatosis type 1.

Using loss of heterozygosity analysis, a method designed to detect moderate to large gene deletions, we have identified a new-mutation neurofibromatosis type 1 (NF1) patient who is somatically mosaic for a large maternally derived deletion in the NF1 gene region. The deletion extends at least from exon 4 near the 5' end of the gene to intron 39 near the 3' end. The gene-coding region is, therefore, mostly or entirely deleted, encompassing a loss of > or = 100 kb. We hypothesize that the deletion occurred at a relatively early developmental timepoint, since signs of NF1 in this patient are not confined to a specific body region, as seen in "segmental" NF, and since both mesodermally and ectodermally derived cells are affected. This report provides the first molecular evidence of somatic mosaicism in NF1 and, taken together with a recent report of germ-line mosaicism in NF1, adds credence to the concept that mosaicism plays an important role in phenotypic and genetic aspects of NF1 and may even be a relatively common phenomenon.

Adult↗
PubMed1995

DSM-IV field trial: obsessive-compulsive disorder.

OBJECTIVE: Three issues relevant to revising the DSM-III-R criteria for obsessive-compulsive disorder were examined in a field trial: 1) the requirement that symptoms of obsessive-compulsive disorder be viewed by the patient as excessive or unreasonable, 2) the presence of mental compulsions in addition to behavioral compulsions, and 3) ICD-10 subcategories. METHOD: The authors studied symptom patterns of obsessive-compulsive disorder as well as strength of obsessive belief among 431 patients with obsessive-compulsive disorder at seven hospital outpatient clinics. Two methods of subject selection were used: consecutive entry of everyone who contacted the clinics for evaluation of obsessive-compulsive disorder and entry of patients with obsessive-compulsive disorder who had continuing contact with the clinics since before the field trial and who were still symptomatic. Primary measures were the Yale-Brown Obsessive Compulsive Scale and face-valid questions about fixity of obsessive-compulsive beliefs. RESULTS: The large majority of patients were uncertain about whether their obsessive-compulsive symptoms were unreasonable or excessive, and most had both mental and behavioral compulsions. Results on the ICD-10 subcategories were equivocal. CONCLUSIONS: The present results converge with previous findings to indicate a broad range of insight among patients with obsessive-compulsive disorder. The DSM-III-R requirement for insight should be de-emphasized in DSM-IV, and mental rituals should be included in the definition of compulsions.

Adult↗
PubMed1994

Neurosurgical treatment for refractory obsessive-compulsive disorder: implications for understanding frontal lobe function.

A minority of patients with obsessive-compulsive disorder (OCD) have a chronic course and extreme disability, with symptoms refractory to pharmacological and psychological treatment. Considerable uncontrolled evidence suggests such cases may respond to neurosurgical intervention. The authors update current stereotactic procedures and their efficacy, safety, and side effect profiles. The design of an ongoing placebo-controlled trial of Gamma Knife capsulotomy for refractory OCD is outlined. Drug treatment of OCD may be assumed to affect a proposed functional imbalance between the frontal lobes and other parts of the brain. As for neurosurgical treatments, both the effects and side effects may be viewed as expressions of their influence on this functional imbalance.

Brain Mapping↗
PubMed1994

The epidemiology and differential diagnosis of obsessive compulsive disorder.

Originally considered a rare disorder, obsessive compulsive disorder (OCD) has been shown to be quite common with a 1% point prevalence in many cultures. Comorbidity with other psychiatric disorders is common, with a lifetime history of major depression present in two thirds of OCD patients. This disorder also coexists with a number of other Axis I disorders including panic disorder, social phobia, eating disorders, and Tourette's disorder. Data collected on phenomenological subtypes have shown that most OC patients have multiple obsessions and compulsions. Another model for subtyping OC symptoms categorizes core features that underlie obsessions and compulsions. These core features such as abnormal risk assessment or incompleteness may be useful in identifying homogeneous subgroups that have distinct treatment responses. The presence of compulsions is helpful in distinguishing this disorder from other anxiety disorders as well as depression. The differential diagnosis of OCD is presented.

Adult↗
PubMed1993

Ventilatory work and oxygen consumption during exercise and hyperventilation.

The work of breathing (WB), and thus the energy requirement of the respiratory muscles, is increased any time minute ventilation (VE) is elevated, by either exercise or voluntary hyperventilation. Respiratory muscle O2 consumption (VRMO2) in humans has generally been estimated by having subjects breathe at a level comparable to that during exercise while the change in O2 consumption (VO2) is measured. The difference between VO2 at rest and during hyperventilation is attributed to the respiratory muscles and is assumed to be similar to VRMO2 during exercise at the same VE. However, it has been suggested that WB differs between exercise and hyperventilation and that WB during exercise is lower than during hyperventilation at the same VE. In this study we measured WB during exercise and hyperventilation and from these measurements estimated VRMO2. WB, VE, and VO2 were measured in five male subjects during rest and during exercise or hyperventilation at levels of VE ranging from 30 to 130 l/min. VE/WB relationship was determined for both hyperventilation and exercise. Multiple regression analysis showed that the shape of the two curves was different (P < 0.0001), with WB at high levels of VE being < or = 25% higher in hyperventilation than in exercise. In a second study in which frequency, tidal volume, and duty cycle were controlled as well as VE, there was no difference in WB between exercise and hyperventilation. VO2 was significantly correlated with WB, and the estimated VRMO2 did not increase as a fraction of total VO2 as exercise intensity rose.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1993

Current issues in the pharmacologic management of obsessive compulsive disorder.

In spite of significant advances in the development of behavioral and pharmacologic strategies for the treatment of obsessive compulsive disorder, little is known about the comparative efficacy and safety of those treatments. In addition, questions about the dose and duration in maintenance treatment remain unknown. This article reviews current issues in the pharmacologic management of patients with obsessive compulsive disorder.

Anti-Anxiety Agents↗
PubMed1993

Obsessive compulsive disorder with psychotic features.

BACKGROUND: The purpose of this study was to systematically identify and characterize the demographic and clinical features of patients with obsessive compulsive disorder (OCD) and psychotic symptoms. METHODS: From a total of 475 patients with DSM-III-R OCD evaluated and/or treated in an outpatient OCD clinic, 67 patients (14%) were identified as having psychotic symptoms in addition to OCD. Psychotic symptoms were defined as hallucinations, delusions, and/or thought disorder. Clinical and demographic data on these probands were collected from semistructured interviews and compared with data collected on the nonpsychotic OCD probands. RESULTS: We identified 27 (6%) of 475 probands with DSM-III-R OCD whose only psychotic symptom was lack of insight and high conviction about the reasonableness of the obsessions ("OCD without insight"). The remainder of the patients with psychotic symptoms and OCD met criteria for distinct DSM-III-R psychotic disorders as well as OCD: 18 probands (4%) had OCD and schizophrenia, 8 probands (2%) had OCD and delusional disorder. Fourteen patients (3%) met criteria for both OCD and schizotypal personality disorder. Compared with the OCD patients without psychosis, probands with OCD and psychotic features were more likely to be male, be single, have a deteriorative course, and have had their first professional contact at a younger age. The data suggest that these differences were largely due to those patients with OCD and schizophrenia-spectrum disorders and not those probands whose only psychotic symptom was complete conviction and lack of insight about their obsessions. CONCLUSION: There appears to be considerable heterogeneity in the clinical features of OCD patients who also have psychotic symptoms. The implications of these findings for understanding delusional states and for diagnostic classification are discussed.

Adult↗
PubMed1992

The epidemiology and clinical features of obsessive compulsive disorder.

During the past decade, there has been rapid growth in understanding the clinical features, pathophysiology, and treatment of obsessive compulsive disorder (OCD). This article reviews the current state of knowledge of the epidemiology and clinical features of OCD with a focus on the disorder's phenomenologic heterogeneity and its comorbidity with other Axis I and Axis II syndromes.

Adult↗
PubMed1992

The epidemiology and differential diagnosis of obsessive compulsive disorder.

Obsessive compulsive disorder is now recognized as a common psychiatric disorder. The lifetime prevalence of 2% to 3% found in the United States has also been found in epidemiologic studies in several other countries with diverse cultures. This disorder has previously been underestimated due to a number of factors that include patients' reluctance to spontaneously admit to obsessions and compulsions and the omission of screening questions about obsessive compulsive disorder on routine mental status examinations. Depression and other anxiety disorders frequently co-occur with obsessive compulsive disorder, which may contribute to misdiagnosis. Patients with eating disorders, Gilles de la Tourette's syndrome, and schizophrenia have a greater comorbid risk compared with the general population. Differential diagnosis of obsessive compulsive disorder includes generalized anxiety disorder, panic disorder, phobias, compulsive personality disorder, and hypochondriasis. While many of these syndromes are characterized by intrusive thoughts, few have associated rituals. The complex tics seen in some patients with Tourette's syndrome may be difficult to distinguish from the compulsions seen in obsessive compulsive disorder, and, in fact, there is significant overlap in symptoms between the two disorders. Currently, the impulse control disorders, such as compulsive gambling and the paraphilias, are not considered to be part of obsessive compulsive disorder. Although the phenomenology of obsessive compulsive disorder appears to be quite diverse, with many distinct kinds of obsessions and compulsions, there are three important core features: abnormal risk assessment, pathologic doubt, and incompleteness. These features cut across phenomenological subtypes and may be useful in defining homogeneous subgroups with distinct treatment outcomes.

Anxiety Disorders↗
PubMed1990

[Complications following cesarean section].

During a seven-years period, 898 women (9.9% of all deliveries) had a cesarean section at the Department of Obstetrics and Gynecology, University Hospital of Tromsø. 29.3% of the women suffered one or more complications (8.5% intraoperative, 23.1% postoperative). The most common complication was infection (22.3%). The following factors were associated with the occurrence of complications: emergency operation, obesity, labor prior to surgery, increased duration of labor or rupture of fetal membranes prior to operation, low gestational age, and station of the presenting part of the fetus below the ischial spinal plane. The same tendency was found for intra- and postoperative complications. Hb levels less than 12.0 g/100 ml increased the risk of infection. We suggest ways of reducing both the number of cesarean sections and the number of complications.

Cesarean Section↗
PubMed1990

Specificity of serotonin reuptake inhibitors in the treatment of obsessive-compulsive disorder. Comparison of fluvoxamine and desipramine.

To evaluate whether serotonin reuptake inhibition is critical to the treatment of obsessive-compulsive disorder, 40 outpatients with a principal diagnosis of obsessive-compulsive disorder were randomized in a double-blind fashion to 8 weeks of treatment with either the serotonin reuptake inhibitor fluvoxamine maleate (n = 21) or the norepinephrine reuptake inhibitor desipramine hydrochloride (n = 19). Fluvoxamine was significantly better than desipramine in reducing the severity of obsessive-compulsive symptoms, as measured by the Yale-Brown Obsessive Compulsive Scale and by the global response rate ("responder" equaling "much improved"). Eleven of 21 patients were responders with fluvoxamine compared with 2 of 19 patients with desipramine. Fluvoxamine, but not desipramine, was also effective in reducing the severity of "secondary" depression. Fluvoxamine-induced improvement in symptoms of obsessive-compulsive disorder was not correlated with the severity of baseline depressive symptoms. This study provides additional evidence that the acute serotonin reuptake properties of a drug are predictive of its anti-obsessive-compulsive efficacy. It is hypothesized that the mechanism of action of serotonin reuptake inhibitors in obsessive-compulsive disorder may be related to chronic treatment-induced adaptive changes in presynaptic serotonin receptor function (eg, autoreceptor desensitization) and/or indirect influences on dopaminergic function (eg, in the basal ganglia).

Adult↗