Search results for "Family"
showing 10 items of 3539 documents
Intensive care nurses’ experiences of caring for obese intensive care patients: A hermeneutic study
2017
Aim and objectives To obtain a deeper understanding of qualified intensive care nurses’ experiences of caring for obese patients in intensive care. Background Admission of obese patients with complex health care needs to intensive care units is increasing. Caring for obese critically ill patients can be challenging and demanding for the intensive care nurse because of the patients’ weight, critical situation, and physical challenges. There is a gap in knowledge at present about qualified intensive care nurses’ experiences of caring for obese patients in intensive care units. Design A qualitative hermeneutic approach. Method The study took place in 2016 at intensive care units of two differe…
Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients
2000
Friedreich's ataxia is caused by mutations in the FRDA gene that encodes frataxin, a nuclear-encoded mitochondrial protein. Most patients are homozygous for the expansion of a GAA triplet repeat within the FRDA gene, but a few patients show compound heterozygosity for a point mutation and the GAA-repeat expansion. We analyzed DNA samples from a cohort of 241 patients with autosomal recessive or isolated spinocerebellar ataxia for the GAA triplet expansion. Patients heterozygous for the GAA expansion were screened for point mutations within the FRDA coding region. Molecular analyses included the single-strand conformation polymorphism analysis, direct sequencing, and linkage analysis with FR…
Predictability of early atopy by cord blood-IgE and parental history.
1997
Summary Background Atopic family history and cord blood IgE have been used as predictors of atopic disease in newborns for about 20 years, but at least for cord blood IgE the sensitivity has been shown to be very low. The objective of this paper was to evaluate whether parental history and cord blood-IgE were more accurate predictors for the appropriate atopic phenotypes in the infants rather than for any atopy. Methods A total of 1314 newborn infants was recruited in six German obstetric departments in 1990 and followed-up for 2 years. Four hundred and ninty-ninc (38%) were at high risk for atopy with at least two first degree atopic family members and/or elevated cord-blood IgE concentrat…
Selective Depletion of Alloreactive T Lymphocytes Using Patient-Derived Nonhematopoietic Stimulator Cells in Allograft Engineering
2008
Background. Selective depletion of alloreactive T cells in vitro results in efficient graft-versus-host disease prophylaxis in allogeneic hematopoietic stem-cell transplantation, but it is accompanied by increased recurrence of leukemia. To spare donor T-cell-mediated graft-versus-leukemia immunity against hematopoiesis-restricted minor histocompatibility (minor-H) antigens, we explored the use of patient-derived nonhematopoietic antigen-presenting cells (APC) as allogeneic stimulators for selective allodepletion in leukemia-reactive donor T-cell lines. Methods. Primary keratinocytes, dermal fibroblasts, and bone marrow fibroblasts were generated from skin biopsies and diagnostic bone marro…
Ancient DNA, Strontium isotopes, and osteological analyses shed light on social and kinship organization of the Later Stone Age.
2008
In 2005 four outstanding multiple burials were discovered near Eulau, Germany. The 4,600-year-old graves contained groups of adults and children buried facing each other. Skeletal and artifactual evidence and the simultaneous interment of the individuals suggest the supposed families fell victim to a violent event. In a multidisciplinary approach, archaeological, anthropological, geochemical (radiogenic isotopes), and molecular genetic (ancient DNA) methods were applied to these unique burials. Using autosomal, mitochondrial, and Y-chromosomal markers, we identified genetic kinship among the individuals. A direct child-parent relationship was detected in one burial, providing the oldest mol…
Supportive and palliative care in people with cirrhosis: International systematic review of the perspective of patients, family members and health pr…
2018
Background & Aims People with cirrhosis have unmet needs, which could benefit from a palliative care approach. Developing effective services needs to be based on evidence from those with personal experience. This review aims to explore; patient and family perspectives of perceived needs including communication; health professionals' perspectives on delivery of care and improving palliative care between specialities. Methods A literature search was conducted in Medline, Embase and CINAHL using key words reporting on the perspectives of patients with liver cirrhosis (18 years and over), family members or health professionals on the provision of care in liver cirrhosis. Study quality was asses…
Low vitamin D serum level is related to severe fibrosis and low responsiveness to interferon-based therapy in genotype 1 chronic hepatitis C
2010
UNLABELLED 25-Hydroxyvitamin D (25[OH]D) can potentially interfere with inflammatory response and fibrogenesis. Its role in disease progression in chronic hepatitis C (CHC) and its relation with histological and sustained virological response (SVR) to therapy are unknown. One hundred ninety-seven patients with biopsy-proven genotype 1 (G1) CHC and 49 healthy subjects matched by age and sex were consecutively evaluated. One hundred sixty-seven patients underwent antiviral therapy with pegylated interferon plus ribavirin. The 25(OH)D serum levels were measured by high-pressure liquid chromatography. Tissue expression of cytochrome (CY) P27A1 and CYP2R1, liver 25-hydroxylating enzymes, were as…
Factors That Contribute or Impede the Physical Health Recovery of Women Exposed to Intimate Partner Violence: A Longitudinal Study
2012
Abstract Background Several cross-sectional studies have demonstrated the negative impact that intimate partner violence (IPV) has on the physical health of women. However, longitudinal studies are needed to establish the time course of this effect. This study assessed the physical health course of female IPV victims and established the factors that enhance or impede their recovery. Methods Women ( n = 91) who participated in a previous cross-sectional study (T-1) and were either victims of physical/psychological IPV ( n = 33) or psychological IPV ( n = 23) were evaluated 3 years later (T-2). A control group of women ( n = 35) was included for comparison. Structured interviews provided …
Harmonization of real-world studies in multiple sclerosis: Retrospective analysis from the rirems group
2020
Background: Worldwide multiple sclerosis (MS) centers have coordinated their efforts to use data acquired in clinical practice for real-world observational studies. In this retrospective study, we aim to harmonize outcome measures, and to evaluate their heterogeneity within the Rising Italian Researchers in MS (RIReMS) study group. Methods: RIReMS members filled in a structured questionnaire evaluating the use of different outcome measures in clinical practice. Thereafter, thirty-four already-published papers from RIReMS centers were used for heterogeneity analyses, using the DerSimonian and Laird random-effects method to compute the between-study variance (τ2). Results: Based on questionna…
Homozygous variants in the gene SCAPER cause syndromic intellectual disability
2019
The S-Phase Cyclin A Associated Protein In The ER (SCAPER) gene is a ubiquitously expressed gene with unknown function in the brain. Recently, biallelic SCAPER variants were described in four patients from three families with retinitis pigmentosa (RP) and intellectual disability (ID). Here, we expand the spectrum of pathogenic variants in SCAPER and report on 10 further patients from four families with ID, RP, and additional dysmorphic features carrying homozygous variants in SCAPER. The variants found comprise frameshift, nonsense, and missense variants as well as an intragenic homozygous deletion, which spans SCAPER exons 15 and 16 and introduces a frameshift and a premature stop codon. A…