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Biomedical subjects

K F Peters

Publications and source records attributed to K F Peters.

17 recordsLinked to original sources
PubMed2005

Psychiatric and neuropsychological characterization of Pallister-Hall syndrome.

Pallister-Hall syndrome (PHS) is a rare, single-gene, malformation syndrome that includes central polydactyly, hypothalamic hamartoma, bifid epiglottis, endocrine dysfunction, and other anomalies. The syndrome has variable clinical manifestations and is inherited in an autosomal dominant pattern. We sought to determine whether psychiatric disorders and/or neuropsychological impairment were characteristic of PHS. We prospectively conducted systematic neuropsychiatric evaluations with 19 PHS subjects ranging in age from 7 to 75 years. The evaluation included detailed clinical interviews, clinician-rated and self-report instruments, and a battery of neuropsychological tests. Seven of 14 adult PHS subjects met diagnostic criteria for at least one DSM-IV Axis I disorder. Three additional subjects demonstrated developmental delays and/or neuropsychological deficits on formal neuropsychological testing. However, we found no characteristic psychiatric phenotype associated with PHS, and the frequency of each of the diagnoses observed in these subjects was not different from that expected in this size sample. The overall frequency of psychiatric findings among all patients with PHS cannot be compared to point prevalence estimates of psychiatric disease in the general population because of biased ascertainment. This limitation is inherent to the study of behavioral phenotypes in rare disorders. The general issue of psychiatric evaluation of rare genetic syndromes is discussed in light of this negative result.

Abnormalities, Multiple↗
PubMed2003

Absence of 2kF splitting in the diffuse scattering from Cu3Au at the (001) surface.

We report a new type of short-range order correlations at the (001) surface of Cu3Au which no longer produces the 2k(F)-splitting characteristic for the bulk short-range order scattering. We present the temperature dependence of this phenomenon and a theoretical interpretation of its origin. We argue that this new surface effect is caused by a drastic change of the strain-induced interactions at the surface.

Journal Article↗
PubMed2002

Living with Marfan syndrome III. Quality of life and reproductive planning.

As individuals with Marfan syndrome are increasingly diagnosed earlier in life and prior to life-threatening cardiovascular events, there is opportunity to study factors that influence their reproductive planning and quality of life. In this study of 174 affected adults, the overall quality of life was reported to be adequate, although it was significantly decreased within the spiritual/psychological domain. Approximately 62% agreed that having Marfan syndrome significantly affected their reproductive decision-making. This view was correlated with age of diagnosis, mitral valve prolapse, and the view that Marfan syndrome has adverse consequences on life. Sixty-nine percent reported personal interest in prenatal testing for Marfan syndrome. Respondents most commonly cited increased worries about personal health and the recurrence risk as ways that Marfan syndrome affects their reproductive decisions. Age, striae, back pain, and low quality of life were each independently correlated with lack of sex drive. These results affirm the importance of both clinical and psychosocial issues on affected adults' reproductive decision-making and sexual well-being. Genetic professionals are ideally positioned to discuss concerns about quality of life and reproduction with patients with Marfan syndrome and refer those with significant concerns for further evaluation and management.

Adolescent↗
PubMed2001

Adsorption of carbon monoxide on Ni(110) above atmospheric pressure investigated with surface X-ray diffraction.

The crystallographic structure of CO adsorbed on Ni(110) has been investigated with x-ray diffraction at ambient pressures of CO ranging from 2.3 to 10(-10) bars. At room temperature, the high pressure and vacuum structures are identical. Above room temperature ( approximately 130 degrees C), the high pressure of CO induces a restructuring of the Ni substrate that develops strained (111) microfacets.

Journal Article↗
PubMed2001

Process studies in genetic counseling: peering into the black box.

Genetic counseling is a dynamic psychoeducational process. Yet we know very little about its interior. Process research explores what transpires between providers and their clients and can serve to provide insight into unknown practice dimensions. The few process studies that have been conducted in genetic counseling provide a glimpse into the Black Box, but more of this type of research is needed to examine the contents. To achieve success with process studies a contemporary definition of genetic counseling is proposed. Thoughtfully designed process studies in genetic counseling will provide the data to refine the definition and identify the components of counseling, the communication process between provider and client, the therapeutic interventions used by counselors, and the needs, attitudes and expectations of clients. Overall, process studies will contribute to a more accurate understanding of the practice of genetic counseling.

Forecasting↗
PubMed2001

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.

We screened 120 children with sporadic multiple congenital anomalies and either growth or mental retardation for uniparental disomy (UPD) or subtelomeric deletions. The screening used short tandem repeat polymorphisms (STRP) from the subtelomeric regions of 41 chromosome arms. Uninformative marker results were reanalyzed by using the next available marker on that chromosome arm. In total, approximately 25,000 genotypes were generated and analyzed for this study. Subtelomeric deletions of 1 Mb in size were excluded for 27 of 40 chromosome arms. Among the 120 subjects none was found to have UPD, but five subjects (4%, 95% confidence interval 1-9%) were found to have a deletion or duplication of one or more chromosome arms. We conclude that UPD is not a frequent cause of undiagnosed multiple congenital anomaly syndrome. In addition, we determined that 9p and 7q harbor chromosome length variations in the normal population. We conclude that subtelomeric marker analysis is effective for the detection of subtelomeric duplications and deletions, although it is labor intensive. Given a detection rate that is similar to prior studies and the large workload imposed by STRPs, we conclude that STRPs are an effective, but impractical, approach to the determination of segmental aneusomy given current technology.

Abnormalities, Multiple↗
PubMed2001

Living with Marfan syndrome I. Perceptions of the condition.

We present data from an exploratory study of 174 adults with Marfan syndrome regarding their cognitive perceptions of the condition as postulated by the self-regulatory model (Leventhal H, Benyamini Y, Brownlee S et al. In: Petrie KI, Weinman JA, eds. Perceptions of Health and Illness: Current Research and Applications. Amsterdam, The Netherlands: Harwood Academic, 1997: 19-45; Leventhal H, Nerenz DR, Steele DJ. In: Baum A, Taylor SE, Singer JE, eds. Handbook of Psychology and Health. Hillsdale, NJ: Lawrence Erlbaum Associates, 1984: 219-252). The vast majority of the respondents had adequate general knowledge about Marfan syndrome. Eighty-three percent of the respondents perceived Marfan syndrome as having had significant adverse consequences on their lives. Having striae, pain (sore joints), and depression were each independently correlated with this view. Fifty-eight percent of the respondents indicated that they felt they had low to moderate control over their condition, demonstrating variability. History of aortic dissection, pain (sore joints), and depressive symptoms were each negatively correlated with the view that Marfan syndrome is a curable/controllable condition. Moreover, approximately 28% view the condition as a lethal condition, whereas 67% view it as a serious condition. Forty-four percent of the cohort were found to have significant symptomatology of depression independent of beta- and Ca2+-channel blockade use. Respondents cited both advantages and disadvantages of being affected. Genetic counseling that addresses patients' perceptions of Marfan syndrome, and its associated pain, fatigue, and depressive symptoms, may enhance patient adaptation to the condition.

Adult↗
PubMed2001

Living with Marfan syndrome II. Medication adherence and physical activity modification.

We investigated the perceptions of and adherence to medication and physical activity guidelines in 174 adults with Marfan syndrome. Over 80% of those prescribed beta- and Ca2+-channel blockade reportedly adhere well to their medication regimen. The presence of cardiovascular symptoms and fatigue were positively correlated with the medication use. Medication-takers reported that they are psychologically receptive to the use of medication for prophylactic treatment of their cardiovascular problems. However, all do not view their medication as essential for their health. Duration of the medication regimen, type of medication, and perception of controllability of the condition were each independently associated with respondents' perceptions of the necessity of taking beta- or Ca2+-channel blockers. Over 80% of the respondents reported that they choose their physical activities with their diagnosis in mind. Modifying exercise activities was significantly correlated with an increased perception of Marfan syndrome as having negative consequences on the respondents' lives. Genetic counseling should address beliefs about medication use and physical activity restrictions, as perceptions of these health behaviors may have significant impact on how adults with Marfan syndrome adhere to these recommendations and cope with their condition.

Adult↗
PubMed2001

The Human Genome Project: an update.

The mapping, sequencing, and analysis of the human genome that has occurred during the last decade through the Human Genome Project are providing fundamental advances for basic science and medicine. Genomic information is providing insights into causes of, susceptibility to, and protection from cancer and a host of other diseases. Already, information generated by the Human Genome Project has been incorporated into the care of cancer patients. Perhaps more so than other types of medical information, genetic knowledge can have profound implications for individuals, families, and society. As a result, nursing professionals in clinical and academic settings are being called upon to identify and deliberate medical, social, ethical, and legal issues stemming from Human Genome Project advancements. The purpose of this article is to review the goals and implications of the Human Genome Project to further prepare cancer nurses to actively participate in the deliberations, research, and clinical activities evolving from the Human Genome Project.

Genome, Human↗
PubMed2001

Genes and inheritance.

The information gained from the Human Genome Project and related genetic research will undoubtedly create significant changes in healthcare practice. It is becoming increasingly clear that nurses in all areas of clinical practice will require a fundamental understanding of basic genetics. This article provides the oncology nurse with an overview of basic genetic concepts, including inheritance patterns of single gene conditions, pedigree construction, chromosome aberrations, and the multifactorial basis underlying the common diseases of adulthood. Normal gene structure and function are introduced and the biochemistry of genetic errors is described.

Chromosome Aberrations↗
PubMed2001

Evidence for decreased growth hormone in patients with hypothalamic hamartoma due to Pallister-Hall syndrome.

Pallister-Hall syndrome (PHS) is characterized by hypothalamic hamartoma, bifid epiglottis, and central or postaxial polydactyly. Familial transmission is autosomal dominant; isolated cases also occur. To screen for hypothalamic-pituitary dysfunction in PHS, we studied a 12 year-old boy (patient #1), and 14 additional patients (patients #2-14: 7M, 7F; ages 4-72 yr). We performed serial sampling of GH, LH/FSH, TSH, and cortisol from 20.00-08 00 h. At 08.00 h, we measured IGF-I, peak responses of LH and FSH after GnRH, and cortisol after ACTH. We found that 6/7 children, including patient #1, and 6/8 adults had low or absent spontaneous GH secretion and/or low levels of IGF-I. Patient #1 also had accelerated pubertal development, but no other patient had abnormalities of the pituitary-gonadal axis, and none of the 14 patients had an abnormal thyroid or adrenal axis. We conclude that decreased pituitary GH secretion is common in PHS, and may exist in the absence of other forms of endocrine dysfunction.

Abnormalities, Multiple↗
PubMed2000

Sudden death caused by pulmonary thromboembolism in Proteus syndrome.

We report 3 patients with Proteus syndrome (PS) who died suddenly from pulmonary embolism (PE). The first patient was a male diagnosed with PS at 12 years who had varicose veins, portal vein thrombosis, right iliac vein occlusion and recurrent PE. At age 25 years, he was admitted to the hospital with a severe headache. Despite therapeutic doses of warfarin, investigations for an acute episode of breathlessness showed PE and he was unable to be resuscitated. The second case was a 9-year-old male with PS who collapsed at home and could not be revived. Autopsy revealed that the cause of death was a PE associated with thrombosis of the deep veins (DVT). The third patient was a 17-year-old female undergoing inpatient treatment for sinusitis when she unexpectedly arrested. She could not be revived and a full autopsy revealed a large PE with no identified DVT. We conclude that PE is a serious complication of PS and recommend vigilance concerning the signs and symptoms of thrombosis and PE in individuals with PS, including children. Aggressive evaluation and treatment should be considered urgently in patients with PS and signs or symptoms of DVT.

Adolescent↗
PubMed1999

Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls.

The oral-facial-digital syndrome type 1 (OFD1) includes limb, facial, intraoral malformations and the gene for the disorder was recently mapped to Xp22.3-p22.2. We report on monozygotic twin girls discordant for OFD1. Monozygosity is supported by placental pathology (monochorionic diamniotic) and molecular studies with probability of dizygosity <1 x 10(-6). The affected twin has oral cavity abnormalities including median cleft lip, cleft palate, lobulated hamartomatous tongue, aberrant hyperplastic oral frenula, alveolar notches, and absent lateral incisors. Facial manifestations include telecanthus, hypoplastic alae nasi, and transient neonatal facial milia. The patient also has short and deviated fingers with partial cutaneous syndactyly. At 10 years, she has not had central nervous system or kidney problems. X-inactivation study revealed similar X-inactivation patterns in the lymphoblasts of both twins. We conclude that skewed X-inactivation is an unlikely cause for the discordance, which is more likely due to a postzygotic mutation in the affected twin.

Child↗
PubMed1998

Clinical differentiation between Proteus syndrome and hemihyperplasia: description of a distinct form of hemihyperplasia.

Proteus syndrome is a rare and highly variable hamartomatous syndrome that can affect multiple organ systems. It is characterized by hyperplastic lesions of connective tissue, vascular malformations, linear verrucous epidermal nevi, and hyperostoses. The cause of the disorder is unknown, but the current working hypothesis is that it is caused by a mosaic alteration that leads to a highly variable phenotype, equal sex ratio, sporadic occurrence, and discordant monozygotic twins. Herein we describe our experience with 18 patients with a referring diagnosis of Proteus syndrome. It was found that imaging studies are very useful for the characterization of the syndrome. One finding was that splenic hyperplasia can be a manifestation of Proteus syndrome. Analysis of the clinical data shows that Proteus syndrome is frequently confused with "hemihyperplasia." A distinct subtype of hemihyperplasia is defined that includes static or mildly progressive hemihyperplasia and multiple lipomata.

Adolescent↗
PubMed1997

Genes and inheritance.

The information gained from the Human Genome Project and related genetic research will undoubtedly create significant changes in health care practice. It is becoming increasing clear that nurses in all areas of clinical practice will require a fundamental understanding of basic genetics. This self-learning module provides the oncology nurse with an overview of basic genetic concepts including inheritance patterns of single gene conditions, pedigree construction, chromosome aberrations, and the multifactorial basis underlying many common diseases of adulthood. Normal gene structure and function will be introduced and the biochemistry of genetic errors will be described.

Chromosome Aberrations↗