First-degree Family Members (first-degree + family_member)

Distribution by Scientific Domains


Selected Abstracts


Current epidemiology of atopic dermatitis in south-eastern Nigeria

INTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 10 2004
Edith N. Nnoruka MB
Background, Atopic dermatitis (AD) is a common pruritic, eczematous skin disorder that runs a chronic and relapsing course. In Nigeria, it is currently on the increase, particularly amongst infants, and has created cost burdens for families. It occurs in association with a personal or family history of asthma, allergic rhinitis and conjunctivitis. Major and minor criteria exist as guidelines for arriving at a diagnosis of AD, and surveys from Western countries have shown that these features, in particular the minor features, vary with ethnicity and genetic background and can be used to aid diagnosis. African dermatologists have also voiced concern that the much used Hanifin criteria for diagnosis of AD may need some adaptation for use in Africa. Objective, To document the features and disease outcomes of AD seen amongst dermatology hospital patients in Enugu, south-eastern Nigeria, with a view to reflecting current features amongst Nigerian Blacks. Methods, A prospective study of AD patients seen over a 2-year period at a tertiary referral dermatology clinic (University of Nigeria Teaching Hospital, Enugu, Nigeria) was carried out. A total of 1019 patients aged between 4 weeks and 57 years were included in the study. Results, The prevalence of AD was 8.5%, which is much higher than the prevalence of AD reported in various parts of Nigeria 15 years ago. AD occurred before the age of 10 years in 523 (51.3%) patients, whilst 250 (24.5%) had onset after 21 years. The earliest age of onset in infants was in the first 6 weeks of life, and this was found in 129 patients (12.7%). Education and occupation of household heads were the most significant (P < 0.001) factors associated with seeking proper health care for the child's AD. Four hundred and forty-one (43.3%) patients presented with subacute atopic eczema and 326 (32%) patients with severe impeteginized eczema. Four hundred and twenty-five patients (41.7%) had at least one first-degree family member with AD (16.7%), allergic rhinitis (10.3%), asthma (14.6%) and allergic conjunctivitis (2.1%), while 55 (13.3%) of controls had a positive family history (P < 0.01) of allergy. A personal history of AD only, without concomitant respiratory allergies, was seen in 486 (47.7%) patients. The face was affected in 431 (42.3%) patients. Inverse distribution of a flexural rash was observed over the extensor aspect of the joints: the elbow in 502 patients (49.3%), the wrist joint in 183 patients (17.9%) and the knee joints in 354 patients (34.7). The commonly observed minor features included xerosis in 719 patients (71%), papular lichenoid lesions in 547 patients (54.1%), infraorbital folds in 498 patients (49.2%), palmar hyper linearity in 524 patients (51.8%) and raised peripheral blood eosinophils in 519 patients (51%), particularly for those with severe AD. Fissured heels, forehead lichenification, orbital darkening, nail pitting, sand paper-like skin lesions on the elbows/knees/lateral malleolli, knuckle dermatitis of the hands, palmar erythema and pitted keratolysis occurred more uncommonly as minor features. Infective complications were very common and included bacterial infections (folliculitis, impetiginized dermatitis and pyodermas) in 425 (41.7%) patients, fungal infections in 377 (37%) patients, parasitic infections (scabies) in 90 (8.8%) patients and viral infection (herpes simplex and molluscum contagiosum) in 29 (2.9%) patients. Thirteen of these atopics were also HIV positive. Aggravating factors most commonly reported included heat intolerance, excessive sweating, humidity, grass intolerance, thick woollen clothing and drug reactions. Only three patients had food intolerance. Three hundred and ten patients (30.4%) recalled their AD being worse in the hot humid periods and 383 (37.6%) could not recall any periods of relief or remission. Conclusions, The prevalence of AD amongst south-eastern Nigerian Blacks is on the increase, as in other areas, although it is still lower here than in other parts of the world. Many conventional minor features were found, but some occurred less frequently than in other countries, which may be attributed to ethnicity. Further studies will be required to confirm the ethnic differences in these features of AD amongst Nigerians and other Africans, to clarify the features of AD that are peculiar to Africans. [source]


The long-term impact of bereavement upon spouse health: a 10-year follow-up

ACTA NEUROPSYCHIATRICA, Issue 5 2010
Michael P. Jones
Jones MP, Bartrop RW, Forcier L, Penny R. The long-term impact of bereavement upon spouse health: a 10-year follow-up. Objectives: This study is the first to examine the effect of bereavement of a first-degree family member on subsequent morbidity over a 10-year follow-up period. Methods: A sample of bereaved subjects (n = 72) were compared with a control group (n = 80) recruited in the same period with respect to morbidity experience during follow-up. Morbidity events were ascertained from the subject themselves, their health care providers and these sources were also compared. Results: Bereavement was associated with an elevated total burden of illness as well as with mental health and circulatory system categories diagnosed according to the International Classification of Diseases - Clinically Modified (ICD-9) classification system. The elevation ranged from approximately 20% for any illness to 60,100% among circulatory system disorders. Although in an earlier study there was a downregulation of T-cell function in the bereaved during the first 8 weeks, there was no evidence that the bereavement was associated with increased morbidity in the respiratory or immune system ICD-9 categories long-term. Conclusions: Past epidemiological research has indicated that bereavement of a close family member is associated with adverse health consequences of a generalised morbidity. Our study suggests an increase in mental health and circulatory system effects in particular. Further research is required to determine whether other systems are also affected by bereavement. [source]


Family history and inherited thrombophilia

JOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 10 2006
G. L. VAN SLUIS
Summary.,Background: It is a common belief that patients with venous thrombosis and a positive family history for venous thromboembolism (VTE) have an increased likelihood of having an inherited thrombophilic defect. Methods: We analyzed the relation between family history, qualified with three different methods, and thrombophilic status in 314 patients with proven VTE. A positive family history (one or more first-degree relatives with VTE) and a strongly positive family history (two or more first-degree relatives with VTE). In 118 of the patients a third, more precise method was analyzed: the family history score, which compares the observed and the expected number of first-degree family members with VTE. Results: Patients with a positive or strongly positive family history had a slightly increased chance of having inherited thrombophilia compared to those without a positive family history. For positive family history this was 42% vs. negative 32%, likelihood ratio 1.3 (95% confidence interval; CI 0.9,2.1) and for strongly positive family history this was 46% vs. negative 34%, likelihood ratio 1.6 (95% CI 0.7,3.3). The family history score correlated with the chance of having inherited thrombophilia [OR 1.23 per score point (95% CI 1.01,1.48)]. However, even with this method the chance of having inherited thrombophilia is lower than 50% in 97% of the cases. Conclusions: Family history of VTE is not a precise tool in clinical practice to identify patients with inherited thrombophilia among patients with VTE. The family history score is more precise, but probably only useful for research purposes and not for daily practice. [source]


Assessment of Microvolt T-Wave Alternans in High-Risk Patients with the Congenital Long-QT Syndrome

ANNALS OF NONINVASIVE ELECTROCARDIOLOGY, Issue 4 2009
Jörn Schmitt M.D.
Background: Microvolt T-wave alternans (MTWA) has been used for arrhythmogenic risk stratification in cardiac disease conditions associated with increased risk of sudden cardiac death. Macroscopic T-wave alternans has been observed in patients with congenital long-QT syndrome (LQTS). The role of MTWA testing in patients with LQTS has not been established. Objective: To determine the diagnostic value of MTWA testing in high-risk patients with LQTS. Methods and results: We assessed MTWA in 10 consecutive LQTS index patients who survived cardiac arrest or had documented torsade de pointes tachycardia and 6 first-degree family members with congenital LQTS which had been genotyped in 13 of 16 subjects (7 index patients, 6 family members). No LQTS-causing mutation was identified in 3 index patients with overt QT prolongation. MTWA was assessed during standardized bicycle exercise testing using the spectral method and yielded negative (n = 8) or indeterminate (n = 2) results in index patients, respectively. Similarly, all first-degree family members tested MTWA negative except for one indeterminate result. Two genotype positive family members could not be tested (two children,4 and 9 years of age). Conclusion: In patients with congenital LQTS, free from structural heart disease and with a history of life-threatening cardiac arrhythmias, assessment of MTWA does not yield diagnostic value. Hence, determination of MTWA in lower risk LQTS patients without spontaneous arrhythmic events is likely not to be useful for arrhythmia risk stratification. [source]


Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax

CLINICAL GENETICS, Issue 2 2008
H-Z Ren
Primary spontaneous pneumothorax (PSP) is a common manifestation of Birt,Hogg,Dubé syndrome caused by folliculin gene (FLCN) mutation, which is also found in isolated familial PSP cases. A complete genetic analysis of FLCN was performed in 102 unrelated Chinese patients with isolated PSP and 21 of their family members. Three novel mutations (c.924_926del, c.1611_1631del and c.1740C>T) and a previously reported mutation (c.1733insC) were identified in five familial and five sporadic PSP patients. Of the 21 family members of patients with PSP including 3 previous considered as sporadic, 4 (19%) had history of at least one episode of PSP and 9 (43%) were FLCN mutant carriers without PSP. Seven of the nine (78%) mutant carriers had pulmonary cysts detected by high-resolution computed tomography (HRCT). Although c.924_926del and c.1611_1631del were found in eight patients from the same geographic district, haplotype analysis demonstrated that they did not share the same affected haplotype, thus excluding common ancestry. This study first demonstrates that FLCN mutation contributes to not only familial but also ,apparently sporadic' patients with isolated PSP. It suggests that mutation analysis and HRCT scan may be recommended for first-degree family members of PSP patients with FLCN mutations, irrespective of their family history status of PSP. [source]