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Biomedical subjects

D Markiewicz

Publications and source records attributed to D Markiewicz.

At least 19 recordsLinked to original sources

The quality of adolescents' friendships: associations with mothers' interpersonal relationships, attachments to parents and friends, and prosocial behaviors.

Adolescents' friendship quality and observed emotional expression with their best friends were predicted from reports of their mother's interpersonal relationships-specifically the quality of her marriage and social network. Two models explaining these relationships received support. Consistent with an Attachment Theory model, adolescents' perceptions of marital quality predicted attachment security with mother, father and friends. Security of attachment to friends in turn predicted best friendship quality, but not affective behavior with the friend. A Social Learning Theory model was also supported, in which perceptions of both marital quality and mother's social network quality predicted adolescents' prosocial behavior. Prosocial behavior in turn predicted both best friendship quality and affective behavior with the friend.

Adolescent↗

Prognostic evaluation of proliferative activity and DNA content in the phyllodes tumor of the breast: immunohistochemical and flow cytometric study of 118 cases.

The goal of this study was the prognostic evaluation of histology, mitotic rate, S-phase fraction (SPF) and expression of proliferative antigen Ki67 and p53 protein in phyllodes tumor of the breast. The study was performed in the group of 118 patients with phyllodes tumor treated by surgery from 1952 to 1998. Mitotic rate was assessed on the representative histological specimens. Expressions of Ki67 and p53 were evaluated by immunohistochemistry on a section from the corresponding paraffin blocks which were also used for flow cytometric DNA evaluation. Histologically, 52 tumors were benign (LGM), 24 borderline malignancies (BM) while among 42 malignant tumors, 20 were monomorphous (HGM) and the remaining 22 revealed heterologic elements (HGH). Tumor recurrencies occurred in 17 patients, predominantly during the first three years after surgery, and 13 patients died of the tumor (1 BM, 12 both malignant variants). Multivariate analysis demonstrated mitotic rate, SPF and p53 expression as independent prognostic parameters for the disease-free survival. Histological tumor type and expression of Ki67 influenced independently the overall survival. In conclusion, the histological type of tumor phyllodes forms the basis for the prognosis of clinical outcome, but the indicators of the proliferative activity, especially Ki67 index, are valuable prognostic factors among patients with malignant variant of phyllodes tumor of the breast. Expression of the p53 protein in tumor cells could be also useful when the percentage of cells and intensity of expression are considered.

Adolescent↗

Developmental profiles of peer social preference over the course of elementary school: associations with trajectories of externalizing and internalizing behavior.

Using a new longitudinal clustering technique, this study aimed to (a) empirically identify groups of children with distinct longitudinal profiles of peer social preference during elementary school; (b) compare these groups regarding their longitudinal pattern of classification into J. D. Coie, K. A. Dodge, and H. Coppotelli's (CDC; 1982) sociometric categories; and (c) compare these groups regarding their longitudinal trajectories of antisocial, hyperactive, and anxious behavior. Based on 299 children, 3 groups were identified: a stable popular group, a stable average group, and an unpopular group whose social preference decreased over time. Each of the groups showed considerable overlap over time with their closest corresponding CDC category (popular, average, rejected). Growth curve analyses showed that externalizing and internalizing behavior generally decreased over time, but overall means and the rates of decrease differed in the 3 groups.

Antisocial Personality Disorder↗

Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations.

Cystic fibrosis (CF) is caused by mutations in the CFTR gene. The spectrum of CFTR mutations varies between populations and depends on different factors, such as ethnic background and geographical location. The extensive CFTR mutation screening of 129 patients with classical or atypical CF from the south-western region of Sweden revealed the presence of 37 CFTR mutations, including 12 novel alleles. The overall mutation detection rate in this study population was 92%, the highest among all tested regions in Sweden. Eight mutations with a frequency above 1% (DeltaF508, 394delTT, R117C, 3659delC, E60X, 1112delT, R764X, and 621 + 1G --> T) accounted for 78% of CF chromosomes and have been recommended for inclusion in the CFTR mutation screening panel for molecular diagnosis of CF in this region. The multiple occurrence of specific CFTR alleles less common than the predominant DeltaF508 mutation (394delTT, R117C, 3659delC) allowed for genotype-phenotype comparisons and revealed consistent relationships between these mutations and disease severity.

Adult↗

Evaluation of DNA content and proliferative activity in prediction of short-term relapses in mammary carcinoma: a prospective study.

DNA content according to six various ploidy classes was analysed by flow cytometry on fresh tumor tissue in 701 unselected, consecutive breast cancers. Age, menopausal status, tumor size, histology and in particular nodal status were also taken into consideration. Diploid and nondiploid mammary carcinomas differed significantly in values of proliferative indicators. In node positive patients nondiploid tumors were more frequent. In node negative and node positive breast cancer patients tumor grade strongly influenced disease free survival and in the last group hypertriploidy (1.6 < DI < or = 1.8) was also an independent prognostic factor. The combination of tumor grade and hypertriploidy permitted differentiation of three groups of node positive patients, differing in the risk of relapses.

Adenocarcinoma↗

Combined surgery and postoperative radiotherapy for carcinoma of the base of radiotherapy for carcinoma of the base of tongue: analysis of treatment outcome and prognostic value of margin status.

BACKGROUND: Choice of treatment for base of tongue carcinoma is controversial, with options including surgery alone, radiotherapy alone, or multimodality treatment. Given the highly aggressive nature of these tumors, it has been our institutional policy to manage this disease with combined partial glossectomy (with attempt to avoid laryngectomy if possible) with planned postoperative radiotherapy (RT). We reported on our institutional experience with this approach. METHODS: A retrospective review of the charts of 17 patients with primary base of tongue squamous cell carcinoma treated with surgery and postoperative RT was performed. Patients treated with chemotherapy as part of their management were excluded. All patients underwent partial, hemi-, or subtotal glossectomy; 15/17 patients underwent ipsilateral radical or modified radical neck dissection. All patients received comprehensive postoperative RT (median dose 6000 cGy; range 5040-6920 cGy). Stage distribution was as follows: stage I, 2; stage II, 3; stage III, 2; stage IV, 10. Positive margins for invasive carcinoma were found in 9/17 patients. Median follow-up of surviving patients is 46 months; median follow-up for all patients is 31 months. RESULTS: For the entire group of patients, the actuarial 3-year local-regional control rate was 68%. The actuarial 3-year overall survival rate was 46%. The local-regional control rate was 83% for patients with stage I-III disease versus 50% for stage IV disease. There were no local failures among eight patients with negative margins (local control 100%) compared with an actuarial local control rate of 36% among patients with positive margins (p = .03). Survival, disease-specific survival, and locoregional control were also highly correlated with margin status (p = .003). Late major complications included 5/17 patients requiring permanent G-tubes and/or tracheostomy to prevent aspiration. CONCLUSIONS: Surgery plus postoperative RT is an intensive treatment for carcinoma of the base of tongue which offers high locoregional control in patients in whom negative margins are achieved. Positive margins indicate a high risk of locoregional and systemic failure, and these patients should be considered for innovative clinical trials after surgery.

Actuarial Analysis↗

An exploration of attachment styles and personality traits in caregiving for dementia patients.

The present study examined the influence of caregivers' Attachment Styles (Anxious-ambivalent and Avoidant factors) and personality traits (Neuroticism, Extraversion, Agreeableness, and Conscientiousness) on their experiences of caring for dementia dependents. A total of 126 caregiver-dependent pairs participated in the study. Support was found for the contribution of the attachment style factors in explaining aspects of caregiver experiences. Those who chose to institutionalize dependents were higher on the Avoidance factor than those choosing to maintain them in the community. Less Anxious-ambivalent caregivers reported larger social support networks, and more satisfaction with the support received than those lower on this factor. The caregiver Anxious/ambivalence and Neuroticism dimensions seemed to function as generalized responses reflected in perceptions and appraisals of the stressful situation.

Adaptation, Psychological↗

Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Six new mutations have been identified in the CFTR gene. These mutations, representing three different categories--missense (R31L, W1098R), nonsense (E1104X), and frameshift (441delA, 681delC, 1461ins4)--are located in exons 2, 4, 5, 9, and 17b of the gene and presumed to cause cystic fibrosis (CF) in patients. All these mutations are probably rare in the population, as no additional examples were found for any of them in a cohort of 545 CF patients. Our study also revealed a benign sequence variation (3499 + 45T-->C) in intron 17b.

Adult↗

Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations.

OBJECTIVE: To compare differences in epithelial chloride conductance according to class of mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. METHODS: We evaluated the relationship between the functional classes of CFTR mutations and chloride conductance using the first diagnostic sweat chloride concentration in a large cystic fibrosis (CF) population. RESULTS: There was no difference in sweat chloride value value between classes of CFTR mutations that produce no protein (class I), fail to reach the apical membrane because of defective processing (class II), or produce protein that fails to respond to cyclic adenosine monophosphate (class III). Those mutations that produce a cyclic adenosine monophosphate-responsive channel with reduced conductance (class IV) were associated with a significantly lower, intermediate sweat chloride value. However, patients with the mutations that cause reduced synthesis or partially defective processing of normal CFTR (class V) had sweat chloride concentrations similar to those in classes I to III. CONCLUSION: Studies of differences in chloride conductance between functional classes of CFTR mutations provide insight into phenotypic expression of the disease.

Child↗

Skipping of exon 12 as a consequence of a point mutation (1898 + 5G-->T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family.

A point mutation (1898 + 5G-->T) located five base pairs downstream from the donor splice site in intron 12 of the CFTR gene has been identified in a consanguineous CF patient of Chinese origin. To determine if this nucleotide substitution could affect mRNA splicing, PCR analysis was performed with RNA isolated from the lymphoblastoid cell line of the mother of the deceased patient. While exon 12-minus transcript was detected in this sample, it was also found in individuals without 1898 + 5G-->T, albeit in a smaller proportion. Using a sequence polymorphism associated with each of the two alleles in the mother, however, we showed that mutant transcript was almost exclusively produced by the 1898 + 5G-->T allele. Skipping of exon 12 would result in the deletion of 29 amino acids from the first nucleotide binding domain of CFTR, rendering the protein non-functional. The possibility of a low level (< or = 2.5%) of normal transcript from the mutant allele cannot be excluded and it may explain the pancreatic sufficient phenotype of the patient. The 1898 + 5G-->T mutation was found in two other CF patients of Chinese origin, but it was not detected in 192 CF chromosomes of Caucasian origin and 30 other chromosomes from Chinese individuals without a family history of CF.

Base Sequence↗

When home caregiving ends: a longitudinal study of outcomes for caregivers of relatives with dementia.

OBJECTIVES: To study caregivers' decisions to end home care for relatives with dementia; to study the changes in caregiver functioning over time. DESIGN: A prospective longitudinal follow-up study. SETTING: Individual homes and chronic care facilities in Montreal. PARTICIPANTS: 157 caregiver-dependent dyads, followed up 2 years later; dependents had been diagnosed as having progressive dementia. MEASUREMENTS: A standard interview and a series of standardized psychological questionnaires were given to caregivers, assessing their functioning and their appraisals of the dependent person in their care. Dependents received the Mini-Mental State Examination. MAIN RESULTS: Caregivers cited patient deterioration as the most common reason for ending home care. Most caregivers did not prepare their relative before institutionalization. Most caregivers were satisfied with having ended home care and believed the decision was positive for themselves and their dependent, but a sizable minority of caregivers and dependents had difficulty adjusting to the end of home care. Repeated measures multivariate analyses indicated that caregivers who had discontinued home care because of placement or death of the dependent had improved functioning and quality of life and better health than caregivers still providing home care. CONCLUSIONS: Caregivers most frequently cite deteriorating patient conditions as the main causes of ending home care. Caregiver exhaustion is the single most frequently given reason. Caregivers who were still providing home care at the end of the study were functioning less well than caregivers who had ended home care, despite having initially functioned at better levels.

Aged↗

Personality traits as determinants of burden and health complaints in caregiving.

This study tested predictions specifying the influence of caregiver personality traits on negative outcomes of caregiving, health complaints and burden. Two-hundred and thirteen caregivers, who were caring for family members with dementia, were interviewed and their relatives were assessed on cognitive status and aggression. At follow-up conducted twenty-four months later, forty-five caregivers were still continuing to provide home care for their dependents. Caregivers who scored higher on a measure of neuroticism experienced higher levels of burden and health complaints both at initial and follow-up assessment. Caregiver extraversion-introversion did not influence the experience of caregiving. At both initial and final assessment, the ability to enjoy some aspects of caregiving, recreational activities, and satisfaction with social support from family and friends mitigated negative outcomes of caregiving, while appraising the dependent as more troublesome increased negative outcomes. Caring for more cognitively impaired and more aggressive dependents and being female increased negative outcomes initially. Personality traits and most other study variables demonstrated significant continuity across time for caregivers continuing home care.

Aged↗

Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G-->T and 711 + 1G-->T mutations.

We have analyzed the CFTR mRNA populations in a cystic fibrosis patient heterozygous for the 621 + 1G-->T and 711 + 1G-->T mutations. Total RNA isolated from the nasal epithelial cells and Epstein-Barr virus-transformed lymphoblasts derived from this patient was reversely transcribed and a region extending from exon 3 to exon 7 of the gene was amplified by the polymerase chain reaction and analyzed. Three abnormal products were identified, suggesting the presence of three aberrant transcripts, and their profiles were identical in both cell types. Two of the products were found to be missing either exon 4 or exon 5 as anticipated from the transcripts from the 621 + 1G-->T or 711 + 1G-->T alleles, respectively. The third product was apparently derived from an alternatively spliced mRNA species in the absence of the nominal splice site (in 621 + 1G-->T) through the use of a cryptic splice donor sequence (TT528/GTGAGG) within exon 4. Although reading frames appeared to be preserved in all three putative transcripts, significant portions of the presumed first and second transmembrane spans as well as the immediately following cytoplasmic domain would be deleted from the mutant CFTR polypeptides, if made. These observations are consistent with a loss of CFTR function in this cystic fibrosis patient.

Alleles↗