Результаты поиска

The familial form of spondylarthropathy: a clinical study of 115 multiplex families. Groupe Français d'Etude Génétique des Spondylarthropathies.

OBJECTIVE: To investigate the interrelationships among different phenotypes, and their relationship to the HLA-Blocus, in multiplex families with spondylarthropathy (SpA). METHODS: We recruited 115 white French families, each of which had at least 2 members with SpA. Pedigrees were established. Clinical data and pelvic radiographs were collected. The HLA-B27 status of all patients was determined. Analysis was performed to determine the prevalence of SpA manifestations according to sex, disease duration, and HLA-B status, and to examine clustering of specific manifestations in subsets of famil

A review on family history of breast cancer: screening and counseling proposals for women with familial (non-hereditary) breast cancer.

With the aim to specify screening recommendations for women with familial (non-hereditary) breast cancer (FBC) we analysed 59 studies using quantitative methods of pooling. The pooled relative risk (RR) and cumulative probability were used to estimate breast cancer risk. The RRs for women with a family history of breast cancer in a first-degree relative was 2.03 (95% CI 1.09-2.22). The highest RR is observed for women with a family history and atypical hyperplasia in their breast biopsy specimen (RR = 10.87, 95% CI 6.05-19.69). A high cumulative probability before the age of 50 was only found …

Premature separation of centromere and aneuploidy: an indicator of high risk in unaffected individuals from familial breast cancer families?

It is estimated that one in every four women with a first-degree relative affected by breast cancer will develop the disease. Recent evidence suggests that susceptibility to breast cancer can be inherited. We have carried out cytogenetic analysis on PHA-stimulated lymphocyte cultures of breast cancer patients (familial and sporadic), patients with benign breast lesions, unaffected individuals from families with a history of breast cancer and healthy controls. A high incidence of premature separation of centromere (PSC) and aneuploidy was observed in a significant proportion of familial breast

In vitro lipolysis of human VLDL: effect of different VLDL compositions in normolipidemia, familial combined hyperlipidemia and familial hypertriglyceridemia.

Suboptimal lipolysis of very low density lipoproteins (VLDL) due to reduced substrate affinity for lipoprotein lipase (LPL) may contribute to the accumulation of apolipoprotein (apo) B in familial combined hyperlipidemia (FCH) or the characteristic increase in triglyceride-rich lipoproteins in familial hypertriglyceridemia (FHTG). To investigate this hypothesis in detail, the VLDL composition and substrate affinity for lipoprotein lipase was determined in 22 normolipidemic controls, 16 FCH probands, and 12 FHTG subjects. VLDL from FCH subjects were enriched in cholesterol and phospholipid. VLD

CDKN2 explains part of the clinical phenotype in Dutch familial atypical multiple-mole melanoma (FAMMM) syndrome families.

Combined multi-point linkage analysis in seven Dutch families with FAMMM syndrome confirmed the location of a melanoma susceptibility (MLM) gene in the 9p21 area. The occurrence of a shared high-risk haplotype in six of the families strongly suggests a founder effect in the Leiden region. No indication for locus heterogeneity was observed. Recently, the CDKN2 (p16) gene, an important regulator of the cell cycle, was isolated from the 9p21 region. A 19-bp germline deletion in the CDKN2 gene was detected in the high-risk haplotype, suggesting CDKN2 to be identical to MLM. Loss of heterozygosity

Autosomal dominant, familial spastic paraplegia, type I: clinical and genetic analysis of a large North American family.

"Familial spastic paraplegia" (FSP) refers to clinically and genetically diverse syndromes characterized by insidiously progressive lower ex … tic linkage analysis, we excluded the FSP1 locus on chromosome 14q11.2 as the disease locus in this family. We present the clinical and genetic features of FSP type I, including the age-adjusted risk of developing the disorder in this family.

Icelandic families with autosomal dominant polycystic kidney disease: families unlinked to chromosome 16p13.3 revealed by linkage analysis.

We have mainly used 3 highly polymorphic DNA markers, 3'HVR (D16S85), 16AC2.5 (D16S291) and SM7 (D16S283), flanking the PKD1 region on chromosome 16p13.3 to establish linkage status in seven Icelandic families with autosomal dominant polycystic kidney disease (ADPKD). In four families, the disease locus is in the PKD1 region, and three families are "unlinked" to chromosome 16p13.3. In one of the "unlinked" families, the disease locus is excluded from a part of the long arm of chromosome 2, and we support a theory of more than 2 loci being responsible for ADPKD. Our data confirm the location of

Familial subtypes of unipolar depression: a prospective study of familial pure depressive disease compared to depression spectrum disease.

In a large multicenter effort, major depressives were systematically studied at index admission and prospectively followed up for 5 years. Primary unipolar depressives with a family history of alcoholism (depression spectrum disease) differ from depressives with a family history of depression only (familial pure depressive disease) in having more familial anxiety and somatization disorder, more divorce, more suicide attempts, more negative life events, and needed more time to recover from the index episode. In the 5-year follow-up they are more likely to develop alcoholism and drug abuse. Depr…

Implementation of peer support for families of children with CHD: leveraging the unique perspectives of leaders within patient/family organisations.

BACKGROUND: Caregivers of children with CHD frequently experience psychological distress related to the chronic and unpredictable demands of their child's diagnosis. Peer support can mitigate distress and promote resilience, but few studies have explored factors affecting its implementation or the experiences of those who provide or facilitate peer support. This study aimed to identify barriers, facilitators, and recommendations for optimising peer support from the unique perspectives of leaders of patient/family organisations within the CHD community. METHODS: Using online crowdsourcing meth…

Implementation of a Family Centered Intervention Among Families with a Parent or Child Who Is Severely Ill - Associations with Organizational Context.

The Family Talk Intervention is a family-centered intervention in six sessions, which can be a tool to help health care social workers support families with dependent children when someone in the family has a severe illness. However, the influence of contextual factors on the implementation of Family Talk Intervention warrants further investigation. The purpose of this study was to examine the organizational context of social workers and its association with the implementation of Family Talk Intervention among families in which a parent or child is severely ill with identified palliative care …

Improving family functioning and wellbeing among families of children with disabilities in Rwanda: an application of the SAFE child protection model.

BACKGROUND: Families of children with disabilities in low-resource settings face heightened challenges to family functioning and wellbeing. Improving a child and caregiver's environment in these settings requires a broader understanding of the family ecosystem. This study aims to investigate factors that should be considered to enhance family functioning and inform family-centered interventions. METHODOLOGY: We conducted 34 in-depth interviews with 30 caregivers of children with disabilities aged 6-8 years enrolled in a larger cluster randomized trial of the Sugira Muryango parenting interven…

Parenting stress and work-family balance as determinants of parent-child relationship quality in dual-earner families in Türkiye.

BACKGROUND: In Türkiye, as in many countries, the increasing prevalence of dual-earner families has intensified the challenge of balancing employment and childcare responsibilities, often in the absence of adequate institutional or workplace support. This strain can affect family relationships, yet the interplay between work-family balance, parenting stress, and parent-child relationship quality remains underexplored in the Turkish context. This study aims to examine parent-child relationships, parenting stress, and work-family balance in dual-earner families, and to investigate how these proc…

Involving Families in Cardiac Care Through Remote Patient and Family Management: Focus Group and Journey Mapping Study.

BACKGROUND: In cardiovascular care, illness and recovery affect both patients and their families, particularly within home-based remote patient management (RPM). A recent scientific statement from the American Heart Association highlighted the importance of family involvement, identifying digital technologies as a key enabling opportunity. Despite this, research into the needs of families and the implications of RPM remains limited. OBJECTIVE: This study explored the lived experiences and unmet needs of patients with cardiovascular disease (CVD) and their relatives within RPM-supported cardia…

Children With Severe Neurologic Impairment and Their Families in the PICU: A Secondary Qualitative Analysis to Assess Clinician-Family Collaboration and Mutuality.

OBJECTIVES: In children with severe neurologic impairment (SNI) admitted to the PICU, a trauma-informed approach to care may mitigate the ef … cluded: 1) knowing a patient beyond the medical chart; 2) understanding values; and 3) clinician(s)-family collaboration. Barriers included: 1) constraints of the PICU environment; 2) challenges when engaging fully with patients with SNI; 3) intrinsic variability among clinicians and parents; 4) families being overwhelmed amid critical illness; and 5) em …

The impact of familial autoimmunity and familial lupus on the clinical presentations and disease outcomes of SLE patients in the United Arab Emirates.

OBJECTIVE: The presentation and outcomes of Systemic lupus erythematosus (SLE) are influenced by ethnicity and genetic background. The United Arab Emirates (UAE) is one of the leading countries of SLE per recent reports. In this study, we evaluated the effect of positive family history (FHx) of SLE and autoimmunity on clinical presentations and disease outcomes. METHODS: A retrospective observational study of patients seen between 2011 till 2023 was conducted. Included patients were those fulfilling the 2019 EULAR/ACR classification criteria. Comparative analyses were conducted between those …

Clinical and genetic characteristics and natural history of Finnish families with familial exudative vitreoretinopathy due to pathogenic FZD4 variants.

PURPOSE: To report clinical and genetic characteristics of familial exudative vitreoretinopathy (FEVR) in the Finnish population. METHODS: Detailed clinical and genetic data of 35 individuals with heterozygous pathogenic variants in FZD4 were gathered and analysed. RESULTS: Thirty-two individuals with FZD4 c.313A>G variant and three individuals with FZD4 c.40_49del were included in the study. The clinical phenotype was variable even among family members with the same FZD4 variant. Only 34% (N = 12/35) of variant-positive individuals had been clinically diagnosed with FEVR. The median age of …

Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene.

Autosomal dominant tubulointerstitial kidney disease (ADTKD) comprises a heterogeneous group of rare hereditary kidney diseases characterized by family history of progressive chronic kidney disease (CKD) with bland urine sediment, absence of significant proteinuria and normal or small-sized kidneys. Current diagnostic criteria require identification of a pathogenic variant in one of five genes - UMOD, MUC1, REN, HNF1β, SEC61A1. The most prevalent form of ADTKD is uromodulin-associated kidney disease (ADTKD-UMOD). Genetic study of a Portuguese family diagnosed with familial juvenile hyperuricem…

Clinical characteristics and outcome of 318 families with familial monoclonal gammopathy: A multicenter Intergroupe Francophone du Myélome study.

Familial forms of monoclonal gammopathy, defined as multiple myeloma (MM) or Monoclonal Gammopathy of Undetermined Significance (MGUS), are relatively infrequent and most series reported in the literature describe a limited number of families. MM rarely occurs in a familial context. MGUS is observed much more commonly, which can in some cases evolve toward full-blown MM. Although recurrent cytogenetic abnormalities have been described in tumor cells of sporadic cases of MM, the pathogenesis of familial MM remains largely unexplained. In order to identify genetic factors predisposing to familia

Совпадение в полном тексте источника
… This ongoing study has presently allowed us to identify 318 families with 837 afflicted family members (median number of 2.5 cases per family, range 2–9). … As summarized in Table 1 , these included 147 families with at least two cases of myeloma, 88 families with at least two cases of MGUS and 116 families with 1 case of MGUS and 1 case of MM. …

Investigation of the Familial Risk of Rheumatic Heart Disease with Systematic Echocardiographic Screening: Data from the PROVAR+ Family Study.

We aimed to use echocardiographic (echo) screening to evaluate the risk of Rheumatic Heart Disease (RHD) among the relatives of patients with advanced RHD, who were enrolled in the University Hospital's outpatient clinics from February 2020 to September 2021. Consenting first-degree relatives were invited for echo screening using handheld devices (GE VSCAN) by non-physicians, with remote interpretation. Matched controls (spouses, neighbors) living in the same household were enrolled in a 1:5 fashion. A standard echo (GE Vivid-IQ) was scheduled if abnormalities were observed. In 16 months, 226