Psychosocial and vocational rehabilitation approaches to multiple sclerosis.
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Chronic lymphocytic leukemia (CLL) and multiple myeloma (MM) are rare, B-lymphocyte malignancies of unknown etiology. CLL appears to have a strong familial component; MM has also been reported in families but to a lesser extent. Clinical reports have suggested associations between each of these disorders and prior history of chronic antigenic stimulation from chronic infections, inflammatory or autoimmune diseases; chronic use of certain drugs; and various occupational exposures thought to be related to certain chemicals. Hypotheses as to possible etiologic agents or exposures are usually suggested by clinical clues from in-depth medical histories. We report four suspect exposures shared by a husband and wife who developed the rare, B-cell tumors, CLL and multiple myeloma.
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From the papers in this symposium, an attempt is made to establish the scope and aim of genetic epidemiology. Specifically, its objective is seen as the elucidation of the role of genetic factors in the etiology of a disease whose distribution is related to individual genetic constitution and population genetic structure. A study of multiple sclerosis in the Orkney Islands provides an example.
OBJECTIVE: To determine the quality-of-life domains most impacted by multiple births. DESIGN: Focus groups, qualitative research. SETTING: Human volunteers in a medical research environment.Forty-three mothers, 29 raising multiple-birth children, 13 raising singletons, identified from random and convenience samples. INTERVENTION: None. MAIN OUTCOME MEASURE(S): Maternal self-reports of the psychosocial sequelae of multiple or singleton births, based on qualitative data analysis of transcribed group discussions. RESULT(S): The quality-of-life domains that were most impacted by raising multiple birth children were social stigma, pregnancy loss, marital satisfaction, children's health, unmet family needs, parenting stress, maternal depression, and the infertility experience. CONCLUSION(S): Qualitative methods identified two novel quality-of-life domains in iatrogenic multiple birth families: social stigma and compounded losses. An unexpected finding was the potential for increased marital solidification as parents coped with the inordinate stresses of multiple births. As anticipated, children's health, unmet family needs, maternal depression, and parental stress were key areas of concern. In addition, the infertility experience had a lasting impact. These findings are significant, given that at least 38% of all assisted conceptions result in a multiple birth. This study lays the groundwork for further research on the impact of iatrogenic multiple births.
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The dental, clinical, genetic, radiological and dermatoglyphic findings in patients from a large kindred with congenital hypodontia of maxillary lateral incisors (CHMLI) in association with coloboma of the iris (Cl) and hypomaturation type of amelogenesis imperfecta (HTAI) are presented. The pedigree of the kindred showing multiple consanguinaeous marriages and the findings of the family members with CHMLI and a family member with CHMLI, Cl and HTAI and two members with both CHMLI and HTAI suggested that the isolated CHMLI was due to an autosomal recessive gene, but, the Cl was determined by an autosomal dominant gene linked to CHMLI gene. HTAI was an autosomal recessive character linked to both CHMLI and Cl.
Using Goffman's theory and the methods of narrative analysis, the paper examines the divorce account of a white working-class man with advanced multiple sclerosis to show how he constructs a definition of his divorcing situation, and a positive masculine identity, despite massive disability. He accomplishes this positive self through narrative retelling of key events in his biography, healing discontinuities by the way he structures his account in interaction with the listener. The strategic choice of genre, or forms of narrative, guides the impression we form of him. From this case study, I show the usefulness of close textual analysis of biographical accounts of illness.
Eighty-one outpatients with diagnosed multiple sclerosis were studied in an effort to examine the relative contributions of physical health status, life stress, duration of illness, age, sex, marital status, and social class on various aspects of personal and interpersonal functioning. Stepwise multiple regression analyses were performed to identify the most significant discriminators of the seven psychosocial measures. Physical health status exerted the broadest influence, affecting personal efficiency and well-being, capacity for independent thought and action, self-confidence, self-reliance, and number of meaningful social contacts. Life stress was associated with lowered personal efficiency and sense of well-being. Duration of illness and the demographic variables had few or no effects on psychosocial adjustment. Discussion contrasts the present findings with others in the rehabilitation literature and specifies certain limitations of the study's design.
First, some details about the symptoms of Multiple Sclerosis and about theories concerning pathophysiology and etiology are described. After that, results of an enquiry into psycho-social coping mechanisms of 27 male patients living with Multiple Sclerosis are shown. In detail: To 85% of these patients micturation problems were a well-know experience. "Urging need to micturate" made it impossible for these patients to participate in public life and brought social isolation for them. A feeling of helplessness and impotence was caused by the symptom of unnoticed incontinence. No patient were divorced because of Multiple Sclerosis, but it seemed that some patients did not marry because of first symptoms of the disease. Changes in sexual functioning of these male patients depended upon the way of coping with sexuality generally by them, and was not merely a constant physiological defect. An investigation was also carried out about the length of time between first symptoms and the correct diagnosis, between the time of correct diagnosis and the time the patient was informed, as well as an investigation about the mourning process itself. For a better understanding of a patient having to cope with a chronic disease it is recommend to take into consideration also his premorbid life history.
Four cases of acrogeria in one large family with multiple consanguineous marriages are reported. Inheritance is autosomal recessive. Evaluation of six generations of this family also showed six individuals with congenital blindness; this pedigree suggests autosomal recessive inheritance also for this disorder. Association of the two conditions was not seen in living members. The initial presentation in the patients with acrogeria was failure of growth during the first year of life, accompanied by characteristic facial appearance and cutaneous atrophy of the face and extremities. The radiologic features of these patients were acro-osteolysis, wide sutures and fontanelles, wormian bones, mandibular hypoplasia and avascular necrosis of the femoral heads. Other features were osteolysis of the clavicles, soft tissue calcification, osteoporosis and coxa valga, which have not been described in previous reported cases.
We describe clinical and molecular findings in a genetic isolate from north-eastern Brazil with early-onset Parkinson's disease (PD) and a novel mutation in the parkin gene. Genealogical studies could connect 255 individuals, of whom 15 had PD. Geographic isolation and multiple consanguineous marriages initially suggested an autosomal recessive inheritance for PD in these patients. The available individuals were personally examined, and DNA was obtained from 26 members: ten early-onset PD patients, one case with likely neuroleptic-induced parkinsonism and 15 unaffected relatives. The average age at onset of PD symptoms was 30.8 years (range 12-46). Haplotype analysis revealed homozygosity in the PD patients for markers across the PARK2 locus. Genomic sequencing identified a novel homozygous splice-site parkin mutation (IVS1 + 1G/T), which completely co-segregated with the early-onset PD phenotype. cDNA analysis confirmed the total loss of parkin transcript in homozygous mutation carriers, delineating this as a loss-of-function mutation. The case with neuroleptic-induced parkinsonism and 13 of 15 healthy relatives were heterozygous carriers of the mutation. The absence of PD in heterozygous carriers indicates a genuinely recessive nature of this mutation, suggesting that parkin haploinsufficiency is not a relevant risk factor for early- or late-onset PD. However, parkin haploinsufficiency could facilitate the emergence of neuroleptic-induced parkinsonism. The cluster reported here, which to our knowledge is the largest described to date with early-onset PD and parkin mutations, also offers a unique opportunity for the search of modifiers of the parkin-related disease.
Abuse of nonnarcotic analgesics is a common but often unsuspected problem that can lead to serious physical illness. This paper reviews the epidemiology, medical consequences, associated psychiatric problems, relationship to psychoactive drug abuse, and treatment of nonnarcotic analgesic abuse, and presents an illustrative case.
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