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Biomedical subjects

D Caprino

Publications and source records attributed to D Caprino.

At least 19 recordsLinked to original sources
PubMed2006

Longitudinal psychosocial outcomes in two cohorts of adult survivors from childhood acute leukemia treated with or without cranial radiation.

AIM: In 1982, 60 children affected by acute lymphoblastic leukemia, treated between 1974 and 1978 with or without cranial radiation, in complete remission, and 2 years at least after stopping therapy, were submitted to a detailed psychological investigation. All those who underwent cranial radiation showed memory impairment. Twenty years after, 49 of them were still alive. On the occasion of the 30th Anniversary of the Department, we contacted their parents and invited them to an encounter: 43 agreed. We wished to learn as much as possible about their current health and psychosocial status. The principal aim of our research was to investigate if any differences existed between the 2 groups and to measure the psychosocial performance of these subjects against comparable Italian figures extracted from the last national census (Census 2001). METHODS: We chose the narrative style for the encounters, because most of them knew about us only from their parents, and we were afraid to use with them questionnaires and official interviews. Most of them did not even know the name of their disease. Our study shows that the whole group of adults had achieved good physical, cognitive, emotional and behavioral development and adjustment. Following the narrative approach, we were able to obtain detailed personal information and the values of capacities of each subject. RESULTS: The results showed no significant differences between the 2 groups and the corresponding age-class in the 2001 Italian census as far as education and occupational group were concerned. Only one unemployed subject (with a university degree) was reported among them. The distribution of fathers' occupation perfectly reflected national figures, and long-term survivors in most cases improved their social level. As regards marriage and fertility no difference was seen between the 2 groups. All these statistics parallel, if not exceed, national figures. CONCLUSIONS: The analysis and comparison of long-term cancer survivors' quality of life can yield important clues and insight, and thus contribute to improved approaches towards newly diagnosed patients, not only regarding treatment protocols, but also psychosocial outcomes.

Adaptation, Psychological↗
PubMed2005

Psychosocial aspects of survivors of childhood cancer or leukemia.

The majority of childhood cancer patients can expect nowadays to be cured and the percentage is now between 70% and 80%. The number of long-term survivors, off- threatment for at least 5 years, is rising rapidly and is becoming a new population, which needs a special care. It is becoming increasingly important to know how to prevent and treat the physical late effects as well as the psychosocial ones. The oldest among these patients are now in their 40's. How will their old age be like? Are they really cured? The aim of this study is to present a detailed survey of the literature on this topic as well as the authors' personal experience. Several techniques of psychological investigation for this population are highlighted. The semistructured interviews are mostly used for mono-institutional research, while the narrative dialogues are useful for small groups of patients. Questionnaires are usually conducted by epidemiologists for large groups of survivors. Tests are used for specific items such as defense mechanisms, self-esteem, relationships within the family, fear, and panic. The evaluation of the post-traumatic stress disorder is considered and the most important literature data are reported. It is also stressed the need of prevention of any type of psychosocial distress. In conclusion, most of the survivors appear to lead normal adult lives, to have obtained high school degrees, good jobs, and several have families and children. Nevertheless, a small percentage show some psychological or social problems, such as anxiety, depression, fear over the future or over relapse, a second primary, or sterility. The most vulnerable among them are females, people in poor financial conditions, the unemployed and those with poor educations.

Child↗
PubMed2005

Parents helping parents: does this psychological mechanism work when the child is affected by a high risk disease?

Mutual help relationships are very important among families with children affected by serious diseases. Discussing common problems and experiences can provide the stimulus for developing the coping strategies that are needed to face new situations. This can thus be done with an outlook that nurtures subsequent adjustment and restoration of a good quality of life after diagnosis and the start of therapy. However, when parents are faced with the ordeal of a child affected by a high risk disease, this interaction may have detrimental effects. Through our observations of the behavior and relationships of 217 families over 5 years, we have been able to identify the caregiver as the staff member who can provide true and helpful support to the children and their parents. This caregiver is in touch with the psychologist supervisor on a daily basis, as well as with all the staff members involved in the global care of the child, including physicians, nurses, school teachers, and play workers. We strongly believe that physicians and caregivers must adopt strategies and practices to improve communication with, and often among, the families of affected children, and that they must act as a reliable source of support for their hopes for a cure. Treatment and recovery must never be proposed as a war to be won, but rather as an alliance among patients, parents, physicians and other caregivers that is formed to build health, and not merely to destroy the disease.

Adult↗
PubMed2001

A new strategy for prenatal diagnosis in a sporadic haemophilia B family.

Although the quality of life for haemophiliacs has clearly improved in the last few years, haemophilia still remains a serious disorder justifying prenatal diagnosis (PD) and, if necessary, termination. Because chorionic villus sampling (CVS) is performed in the first trimester of pregnancy, an increasing number of carriers are interested in this test. It has been shown that waiting for the results is particularly distressing for pregnant women, therefore decreasing the diagnostic procedure time can be psychologically helpful. Here we report on PD in a sporadic haemophilia B family based on the direct identification of the pathogenic mutation in a CVS taken at the 12th gestational week. In order to hasten the results, we recovered DNA from a single villus fragment boiled in water and used it directly for PCR reaction. Conformation-sensitive gel electrophoresis (CSGE) was used to detect the mutation in the haemophilia carrier and in the foetus. This approach allowed us to obtain a diagnosis within 24 h of CVS, thus avoiding the long-term psychological effects on the pregnant woman.

Female↗
PubMed1995

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.

Twenty-two molecular diagnostic laboratories from 14 countries participated in a consortium study to estimate the impact of Factor VIII gene inversions in severe hemophilia A. A total of 2,093 patients with severe hemophilia A were studied; of those, 740 (35%) had a type 1 (distal) factor VIII inversion, and 140 (7%) showed a type 2 (proximal) inversion. In 25 cases, the molecular analysis showed additional abnormal or polymorphic patterns. Ninety-eight percent of 532 mothers of patients with inversions were carriers of the abnormal factor VIII gene; when only mothers of nonfamilial cases were studied, 9 de novo inversions in maternal germ cells were observed among 225 cases (approximately 1 de novo maternal origin of the inversion in 25 mothers of sporadic cases). When the maternal grandparental origin was examined, the inversions occurred de novo in male germ cells in 69 cases and female germ cells in 1 case. The presence of factor VIII inversions is not a major predisposing factor for the development of factor VIII inhibitors; however, slightly more patients with severe hemophilia A and factor VIII inversions develop inhibitors (130 of 642 [20%]) than patients with severe hemophilia A without inversions (131 of 821 [16%]).

Blotting, Southern↗
PubMed1993

Carrier detection and prenatal diagnosis of hemophilia B with more advanced techniques.

We used the PCR to amplify three polymorphic regions of Factor IX gene on 35 Italian families: DdeI intron 1, Mn1I exon f, and the polymorphism HhaI located 8 kb at the 3' end of FIX gene. We analyzed the Mn1I and HhaI markers on DGGE and DdeI polymorphism on agarose gel. We reached an informativity of 78% and we found one mutation at codon 145 (exon f) during the screening for Mn1I polymorphism. Furthermore, we performed 16 prenatal diagnoses on chorionic villus samples; five were female and 11 male. Four were uninformative three healthy and one affected male fetus were recognized by PCR techniques, two healthy and one affected fetus by Southern analysis. In three pregnant women examined for the first time during pregnancy, the PCR technique allowed us to perform a rapid diagnosis of noncarrier status, avoiding the fetal sampling procedures.

Base Sequence↗
PubMed1992

Concomitant Turner syndrome and hemophilia A in a female with an idic(X)(p11) heterozygous at locus DXS52.

A 46,X,idic(X)(p11) karyotype was found in a female affected by Turner syndrome and sporadic moderate hemophilia A. Restriction fragment length polymorphism analysis of the patients's DNA demonstrated that the idic(X) contained alleles from both maternal X chromosomes. Since the idic(X) appeared to be always inactivated, a de novo mutation of factor VIII in the normal paternal X chromosome is probably responsible for the patient's coagulation disorder.

Adolescent↗
PubMed1982

Leucocyte migration-inhibitory activity in human cord blood.

Leucocyte migration-inhibitory activity was found in the sera (cord blood) of 15/28 (53%) healthy, fullterm newborn infants as opposed to only 3/28 (10,7%) control children under three years of age (P less than 0,005). It is postulated that the migration-inhibitory activity may be related to lymphokine-dependent mechanisms.

Child, Preschool↗
PubMed1981

Serum migration-inhibitory activity in infants with respiratory syncytial virus bronchiolitis.

Using an unidirectional leucocyte migration-inhibition (LMI) assay, we investigated the migration-inhibitory activity (LIF) in the sera of 25 infants who developed bronchiolitis following respiratory syncytial virus (RSV) infection. Blood samples for serum-LIF activity detection were obtained from patients the day after admission and two weeks later. The LMI assay revealed serum-LIF activity in 17 (68%) blood samples taken during the acute phase of the disease. In contrast, no inhibition was found in the convalescent blood samples with the exception of 5 (20%). This difference was statistically significant (chi2 = 9.82; P less than 0.005). As positive serum-LIF test is a good in vitro correlate of cell-mediated immunity, our results suggest that cell-mediated hypersensitivity reactions occur during the clinical course of RSV bronchiolitis. These findings are consistent with the hypothesis that alterations of RSV-specific cell-mediated immune mechanisms may be involved in the pathogenesis of this illness.

Bronchiolitis, Viral↗