Assessment Of Family Members Research Articles

Death rattle: palliative nursing practices Delphi study

ObjectivesInterventions for patients with death rattle remain under consideration, and their families strongly acknowledge the need for improved care. However, few reports exist concerning specific and comprehensive nursing practices for...

Assessment of Family Members’ First Aid Education in Saudi Arabia

Background: Providing instant care for life-saving or rescuing the injured or sick people requires having a considerable amount of first aid (FA) knowledge and experience. The current work sheds some light on the current status of Saudi family members’ first aid knowledge and experience aiming at reaching a sustainable decrease in the number of deaths and unnecessary losses. Methodology: A questionnaire was used to collect (N=447) participants’ information 35.6% (159/447) males and 64.4% (288/447) females from a number of Saudi cities. The collected data were analyzed using IBM SPSS v 25. Results: The results showed that 48.3% (216/447) of the participants have good FA experience and only 7.2% (32/447) have excellent FA experience. The majority of the participants 65.3% (292/447) were not FA-certified, 22.8% (102/447) attended an FA course, and 11.9% (53/447) were certified first aiders. 93.7% (419/447) of the participants think that the community’s FA awareness is low. The results also reported statistically significant association between being related to health care sector and FA experience χ2(3) = 56.8, p = 0.000, witnessing accidents and gender v χ2(7) = 19.1, p = 0.008, and having got FA tools and FA experience χ2(3) = 28.5, p = 0.000. Conclusion: The current study’s results along with numerous similar research provoke a public outcry to take practical steps towards enhancing a sustainable community’s FA education through campaigns, workshops, and training courses.

Experiences of Family Caregivers’ Involvement in Treatment Related- Decision-Making in Triadic Health Encounters

Purpose: To explore the experiences of family caregiver in health decision-making for patients with chronic diseases. Study Design: Qualitative Descriptive Design. Subjects and Methods: A descriptive qualitative approach was used. A purposive sample of fifteen family caregiver for patients with chronic diseases were interviewed in Amman, Jordan; fifteen caregivers; males (n= 2), females (n= 13). Average of age = 40 years old. Data were generated through phone messages voice records over a period of two months (March & April 2020) in Amman, Jordan. Data were analyzed using a five–step technique proposed by Giorgi (1985). Results: The findings of the study revealed that three major themes related to family caregivers’ experiences in health decision-making for patients with chronic diseases: 1) The patient has the right to decide about his health, 2) Healthcare providers know better, and 3) Roles of family caregivers in the decision making process. Conclusion: The vital role of the family members in taking decisions for patients with chronic diseases is well-recognized by healthcare providers. Continuous systematic assessment of family members’ preferences and needs is crucial to provide the needed support for their patients in decision-making.

Ten-fold increase in genetic testing in pancreatic and metastatic prostate cancer with implementation of point of care (POC) testing.

1506 Background: Germline genetic testing (GT) for cancer susceptibility is recommended for pancreatic and advanced prostate cancer patients, due to potential implications for targeted therapies and risk assessment of family members. Traditional cancer GT programs may create barriers for certain patient populations. To more effectively integrate testing into standard oncology care POC GT was introduced in early 2018 in a joint protocol with Memorial Sloan Kettering Cancer Center. Here we report pre and post POC referral and testing numbers at the University of Pennsylvania. Methods: Patients with metastatic prostate or pancreatic cancer were ascertained through their GU/GI oncologist onto an IRB approved protocol and shown an educational video about GT by research staff who obtained informed consent and facilitated biospecimen collection. Genetic counselors returned results and provided post-test counseling by phone. To evaluate the impact of this model on the uptake of GT services, the number of patients who were referred to and proceeded with GT was compared before and after study initiation. Results: In 2017, 77 patients were referred to genetics of which 45 underwent genetic counseling and testing. Twenty-nine (38%) did not complete genetic counseling or testing, and 3 later underwent testing through the POC study. Since the study launched in 2018, 407 patients were referred and underwent testing through the study. This represents a ten-fold increase in patients who underwent GT. Conclusions: Comparing uptake of GT services before and after study initiation suggests that a POC model with abbreviated pre-test education and post-test genetic counseling by phone is a possible solution to barriers of traditional genetic counseling, increasing physician referrals and uptake of testing by patients. This approach allows for more timely access to genetic information that may impact treatment strategies and medical management of family members. Clinical trial information: pending. [Table: see text]

Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation.

Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder and an allelic form of hyaline fibromatosis syndrome that is caused by mutations in the ANTRX2 gene encoding the transmembrane anthrax toxin receptor 2. Its main features include characteristic skin lesions, joint contractures, persistent diarrhea, and failure to thrive due to accumulation of hyaline material in multiple organs. The resulting severe malnutrition can cause death in early infancy. Because of its rarity and high fatality rate, timely diagnosis is difficult and ISH may be underdiagnosed. In this report, we describe a 10-month-old male with severe protein-losing enteropathy, skin lesions, and painful joint contractures, diagnosed with ISH based on skin his-topathology and identification of a novel homozygous ANTRX2 mutation, c.1127_1128delTG (p.V376Gfs*14). While its clinical outcome is poor without curative treatment, establishing a diagnosis of ISH starting from clinical suspicion to molecular analysis is important for appropriate medical management and for risk and carrier assessment of family members.

Diagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study)

Unexplained cardiac arrest (UCA) can be caused by low-penetrance genetic disorders. The aim of this cross-sectional study is to assess the usefulness of a new diagnostic protocol: Thirty-five patients were recruited from 9 Spanish centers. Electrocardiogram, echocardiogram, and coronary catheterization were used to rule out electrical or structural heart disease in all subjects. Patients underwent pharmacologic tests with epinephrine and flecainide, followed by assessment of family members using electrocardiogram and echocardiogram, and next-generation genetic sequencing to analyze 126 genes if all the other test results were negative. A firm diagnosis of channelopathy required phenotypic proof of the condition in unmasking tests, the presence of a pathogenic variant consistent with the phenotype observed, and/or co-segregation of the mutation found in a family member's phenotype. A firm diagnosis was made in 18 cases. The diagnoses were 7 Brugada syndrome, 5 catecholaminergic polymorphic ventricular tachycardia, 3 long QT syndrome, 2 early repolarization syndrome, and 1 short QT syndrome. Pharmacologic testing was the most frequent method of diagnosis. In 5 cases, the diagnosis was made based on positive genetic testing without phenotypic alterations. In conclusion, this sequential diagnostic protocol allows diagnoses to be made in approximately half of the UCA cases. These diagnoses are low clinical penetrance channelopathies. If interpreted carefully, genetic tests can be a useful tool for diagnosing UCA without a phenotype.

A comprehensive assessment of family caregivers of stroke survivors during inpatient rehabilitation

Purpose: Stroke caregivers have been identified as a group at high risk for poor outcomes as a result of the suddenness of stroke and a potentially high level of care needed due to significant functional limitations of the patient. However, there is little research on the assessment of family members who will assume the caregiving role prior to patient discharge from rehabilitation. The purpose of this article is to delineate critical assessment domains identified by a subset of spousal stroke caregivers. Methods: Semi-structured interviews were conducted pre- and post-discharge from rehabilitation as part of a larger study that focused on identifying caregiver and stroke survivor needs as they transitioned home from inpatient rehabilitation. For this study, two semi-structured interviews with 14 spousal caregivers were analyzed using grounded theory methods. Results: Long-term stroke survivor outcomes were dependent upon the commitment, capacity and preparedness of the family caregiver. Twelve domains of assessment were identified and presented. Conclusions: A comprehensive, systematic caregiver assessment to understand the caregiver’s concerns about stroke should be conducted during rehabilitation to help the team to develop a plan to address unmet needs and better prepare family caregivers to take on the caregiving role.Implications for RehabilitationStroke is a sudden event that often leaves stroke survivors and their families in crisis.The needs of stroke family caregivers are not often systematically assessed as part of inpatient rehabilitation.Long-term stroke survivor outcomes are dependent upon the commitment, capacity and preparedness of the family caregiver.Stroke caregiver assessment should include the commitment, capacity and preparedness to provide care, and the overall impact of stroke in order to develop discharge plans that will adequately address the needs of the stroke survivor/caregiver dyad.

Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension

BackgroundAim of this prospective study was to compare clinical and genetic findings in children with idiopathic or heritable pulmonary arterial hypertension (I/HPAH) with children affected with congenital heart defects associated PAH (CHD-APAH).MethodsProspectively included were 40 consecutive children with invasively diagnosed I/HPAH or CHD-APAH and 117 relatives. Assessment of family members, pedigree analysis and systematic screening for mutations in TGFß genes were performed.ResultsFive mutations in the bone morphogenetic protein type II receptor (BMPR2) gene, 2 Activin A receptor type II-like kinase-1 (ACVRL1) mutations and one Endoglin (ENG) mutation were found in the 29 I/HPAH children. Two mutations in BMPR2 and one mutation in ACVRL1 and ENG, respectively, are described for the first time. In the 11 children with CHD-APAH one BMPR2 gene mutation and one Endoglin gene mutation were found. Clinical assessment of relatives revealed familial aggregation of the disease in 6 children with PAH (HPAH) and one CHD-APAH patient. Patients with mutations had a significantly lower PVR.ConclusionMutations in different TGFß genes occurred in 8/29 (27.6%) I/HPAH patients and in 2/11 (18.2%) CHD-APAH patients and may influence the clinical status of the disease. Therefore, genetic analysis in children with PAH, especially in those with I/HPAH, may be of clinical relevance and shows the complexity of the genetic background.

Abstract 2628: Genome-wide sequencing identifies ATM as a pancreatic cancer susceptibility gene

Abstract Pancreatic ductal adenocarcinoma (PDA) affects over 44,000 people in the United States every year and carries a dismal prognosis, with a 5-year survival rate of just 5%. A subset of these patients (5-10%) report a familial history of the disease. The genetic etiology in these familial cases is poorly defined, with known susceptibility genes, such as: BRCA2, PALB2, CDKN2A, BRCA1, PRSS1 and STK11, accounting for only 10-15% of familial pancreatic cancer. In an effort to identify previously unappreciated pancreatic cancer susceptibility genes, we used next generation sequencing technology to evaluate the whole genome and whole exome sequences of 16 (6 families) and 22 individuals (10 families) respectively. All of these families enrolled into one of the familial pancreatic cancer registries participating in the Pancreatic Cancer Genetic Epidemiology (PacGene) Consortium, all had at least three members with PDA, and DNA was available from at least two affected members in each kindred. Using this approach, we identified heterozygous, inactivating, ATM mutations in two kindreds with familial pancreatic cancer (c.8266A>AT; p.K2756X and c.170G>GA; p.W57X). These mutations were previously reported as disease causing variants in patients with ataxia-telangiectasia, an autosomal recessive condition resulting from bi-allelic deleterious mutations of ATM. Interestingly, heterozygotes of deleterious ATM mutations have an increased risk of breast cancer. However, there have been no previous reports of deleterious ATM mutations in the germline of familial PDA patients. In our study, mutations segregated with disease in both kindreds and tumor analysis demonstrated Loss of heterozygosity (LOH) of the wild-type allele. Sequence analysis of the entire ATM gene in an additional 166 familial pancreatic cancer probands indentified four additional patients with deleterious mutations in the ATM gene (c.3214G>GT; p.E1072X, c.6095G>GA; p.R2032K, IVS41-1G>GT and c.3801delG), while no deleterious mutations were identified in 190 spouse controls (p=0.046). When considering only the mostly severely affected families, those with three or more pancreatic cancer cases, four deleterious mutations were found in 87 families (P=0.009). These results indicate that ATM mutations play an important role in familial pancreatic cancer predisposition and have significant implications in the management of affected individuals and the risk assessment of family members. Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 103rd Annual Meeting of the American Association for Cancer Research; 2012 Mar 31-Apr 4; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2012;72(8 Suppl):Abstract nr 2628. doi:1538-7445.AM2012-2628

Correlates of Perceived Need for Mental Health Care Among Active Military Personnel

Correlates of Perceived Need for Mental Health Care Among Active Military Personnel

Quality of Life and Health Status of Dyads of Women With Lung Cancer and Family Members

To describe and compare the quality of life (QOL) and health status of dyads of women with lung cancer and their family members and to explore the correlates of family members' QOL. Descriptive, cross-sectional. Interview, self-report. 51 dyads consisting of women with lung cancer and their family members. One-time assessment of family members' and patients' QOL, health status, and demographics and patients' clinical characteristics. Family and patient QOL and health status. QOL of the dyads was not significantly related. Poorer physical QOL of family members was associated with older age, comorbid conditions, less education, and alcohol use. Poorer emotional QOL of family members was associated with younger age, depressed mood, and not being a spouse. Fifty-nine percent of family members had comorbid conditions. Significantly more family members continued to smoke and use alcohol. The QOL of family members of patients with lung cancer is diminished when their own health status is compromised. Further study is needed. Additional study is needed to identify family members at risk for diminished QOL and with compromised health status because these factors might affect ability to support patients with lung cancer.

Screening for RB1 Mutations in Tumor Tissue Using Denaturing High Performance Liquid Chromatography, Multiplex Ligation-Dependent Probe Amplification, and Loss of Heterozygosity Analysis

Retinoblastoma is a malignant retinal neoplasm arising in infancy as a result of inactivating mutations in both alleles of the retinoblastoma susceptibility gene, RB1. Identification of the causative RB1 mutations in a patient assists in the clinical management of the affected patient and risk assessment of family members, principally on the basis of whether there is a germline mutation. In this paper, we describe our experience with molecular analysis of RB1 mutations in tumor and nontumor samples from 18 retinoblastoma patients, using multiplex ligation dependent probe amplification (MLPA) to detect large deletions or duplications, microsatellite analysis to detect loss of heterozygosity (LOH), and denaturing high performance liquid chromatography (D-HPLC) analysis to detect point mutations and small insertions or deletions. We found LOH in 71% of all cases, and 83% of these were due to acquired isodisomy rather than chromosomal deletions. Small mutations identified by D-HPLC accounted for 78% of the non-LOH mutations, and large deletions/duplications detected by MLPA accounted for the remaining 22%. We give the first report of a large, multiexon duplication in RB1 of exons 8 to 18.

Functional Analysis of a Novel GATA3 Mutation in a Family with the Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome

The hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by mutations of a member of the GATA-binding family of transcription factors, GATA3. This dual zinc finger transcription factor binds DNA with its C-terminal zinc finger (ZnF2) and stabilizes this binding with its N-terminal zinc finger (ZnF1). ZnF1 also interacts with other zinc finger proteins, notably Friend of GATA (FOG). The HDR syndrome has been described in patients with mutations affecting both ZnF1 and ZnF2 domains; the former result in inefficient interaction with FOG, and the latter result in disruption of DNA binding. We report a patient with renal failure, hypoparathyroidism, and bilateral hearing loss. Assessment of family members indicated that the disease arose as a de novo mutation in her mother. Analysis of GATA3 in the family revealed a heterozygous missense mutation resulting in a nonconservative change of a single amino acid (R276P) in the ZnF1 domain. Functional analysis using dissociation electrophoretic mobility shift and yeast two-hybrid assays showed reduced binding affinity to the GATA motifs but normal interaction with FOG in vitro. These results are consistent with the predicted functions of human GATA3-ZnF1 from three-dimensional molecular modeling and with HDR being a result of GATA3 haploinsufficiency.

Neurological assessment of family members from singly and multiply affected schizophrenic families

Neurological assessment of family members from singly and multiply affected schizophrenic families

Family images of the adolescent: An empirical method for clinical assessment.

A method is described for the assessment of family members' individual and collective images of the family's adolescent. The Q-Sort of Adolescent Images is a 36-item Q sort that assesses these images along 6 clinically salient, bipolar dimensions of adaptive and maladaptive fundtioning.

Therapeutic strategies with school phobics.

Consistent with the excessive power manifestations of school phobics, treatment is conceptualized in terms of strategy. Assessment of family members, the method, timing and choice of participants are all handled within a tactical framework. A “showdown” is expected when pressure is increased to return the child to school.