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PubMed1995

My family dies from heart attacks. How hypercholesterolaemic men refer to their family history.

Patients often worry considerably about biomedically mild and self-limiting conditions. A previous study on non-selected primary care patients showed that this could be partly explained by frequent associations with cases of serious illness in their family histories. This study further investigated these phenomena in middle aged men with a recent diagnosis of hypercholesterolaemia. Sixty-three out of 453, 35-45-year-old male participants were diagnosed with moderate hypercholesterolaemia (6.5-7.7 mmol/l) in a health survey and received 20-30 minutes of life-style counselling. These sessions were audio-taped, transcribed and analysed with respect to the subjects' references to their family histories. Of the 63 men, 28 (45%) mentioned their family history. The main content category in these talks was perceived threat or risk, comprising the seriousness of the event in the family history on one hand and its believed relevance on the other. Fatal, serious or premature disease was discussed. Prevailing lay knowledge and beliefs about hypercholesterolaemia, risk factors and disease causation seemed to determine what conditions in the family history were judged relevant by the men. Several of the men referred to heredity and several regarded emotional closeness important. In a few cases the event referred to mainly functioned as an illustration or example of lay knowledge and beliefs. This study provides support for the view that the family history can play an important role for how asymptomatic patients interpret their risk factors for disease. This is important for the development of consultation skills.

Adult↗

PubMed1997

Statistical modeling and analysis of the LAGLIDADG family of site-specific endonucleases and identification of an intein that encodes a site-specific endonuclease of the HNH family.

The LAGLIDADG and HNH families of site-specific DNA endonucleases encoded by viruses, bacteriophages as well as archaeal, eucaryotic nuclear and organellar genomes are characterized by the sequence motifs 'LAGLIDADG' and 'HNH', respectively. These endonucleases have been shown to occur in different environments: LAGLIDADG endonucleases are found in inteins, archaeal and group I introns and as free standing open reading frames (ORFs); HNH endonucleases occur in group I and group II introns and as ORFs. Here, statistical models (hidden Markov models, HMMs) that encompass both the conserved motifs and more variable regions of these families have been created and employed to characterize known and potential new family members. A number of new, putative LAGLIDADG and HNH endonucleases have been identified including an intein-encoded HNH sequence. Analysis of an HMM-generated multiple alignment of 130 LAGLIDADG family members and the three-dimensional structure of the I- Cre I endonuclease has enabled definition of the core elements of the repeated domain (approximately 90 residues) that is present in this family of proteins. A conserved negatively charged residue is proposed to be involved in catalysis. Phylogenetic analysis of the two families indicates a lack of exchange of endonucleases between different mobile elements (environments) and between hosts from different phylogenetic kingdoms. However, there does appear to have been considerable exchange of endonuclease domains amongst elements of the same type. Such events are suggested to be important for the formation of elements of new specficity.

Amino Acid Sequence↗

PubMed1983

Familial systemic lupus erythematosus: immunogenetic studies in eight families.

Familial SLE provides a unique opportunity to study the relationships of previously associated genetic factors (HLA and complement component deficiencies) to the occurrence of SLE, other immune disorders, and autoantibodies in families. Thus, eight families containing two or more affected members with SLE (n = 22) and their relatives (n = 40) were examined for HLA genotypes, complement components and autoantibodies. Among the 40 non-SLE relatives, 7 (18%) had other immune diseases, including thyroid disease in 2, rheumatoid arthritis in 2, ITP in 2, and Henoch-Schönlein purpura in one. This compared to 4 of the 22 SLE patients (also 18%) of whom 3 had thyroid disease and one PSS. Eleven non-SLE relatives (28%) had ANA, which was in high-titer in 5 (13%). Eleven (28%) had antibodies to ssDNA, and one had a BFP. Only the SLE patients had antidsDNA, Ro(SSA), Sm or nRNP. A heterozygous C2 deficiency (C2D) was found in only one of the seven kindreds studied, and followed an A25, B18 DR7 haplotype. Heterozygous C2D, however, was inherited by only one of three family members with SLE. HLA-DR2 occurred in 36% and DR3 in 36% of SLE patients, which was not significantly different from either non-SLE family members or unrelated local controls. Sib pair analysis of seven sets presented here and seven from two published reports, demonstrated only random distribution with SLE. Similarly, other immune disorders and autoantibodies followed no consistent HLA haplotypes or DR specificities. Interestingly, DR2 and/or DR3 were found in five of the six patients (83%) having anti-ro(SSA) antibodies (p = NS). These data strongly suggest that genetic factors (other than HLA and complement component deficiencies) and/or environmental factors are necessary for the expression of SLE and other immune abnormalities in lupus families.

Adult↗

PubMed2002

Familial medulloblastoma: case report of one family and review of the literature.

OBJECTIVE AND IMPORTANCE: Medulloblastoma is the most common malignant brain tumor and the most common malignant solid tumor in children. Most medulloblastomas are sporadic, but rare familial forms have been described. To the best of our knowledge, only 10 case reports of familial medulloblastoma have been published. A variety of candidate genes have been suggested to be involved in familial medulloblastomas. However, the exact pathogenesis and genetics involved in familial medulloblastoma remain unknown. CLINICAL PRESENTATION: We describe the presentation of medulloblastoma in two siblings (one of each sex) and their great-uncle. The three cases differ with regard to age at onset and pathological subtype of medulloblastoma. INTERVENTION OR TECHNIQUE: Immunostaining of tissue blocks for gene products involved in medulloblastoma differed in the two siblings for beta-catenin and was similar with staining for gli. CONCLUSION: This article is only the second report in the literature to address the genetics of familial medulloblastoma in the absence of characterized conditions such as Li-Fraumeni's cancer syndrome and basal cell nevus, Rubinstein-Taybi's, and Turcot's syndromes. The discrepancy in beta-catenin staining in the two siblings suggests that the two tumors differentiated through divergent pathways. We briefly summarize all published cases of familial medulloblastoma and review the literature on the genes involved in medulloblastoma formation.

Adult↗

PubMed1998

Characteristics of familial and non-familial melanoma in Australia.

Between 6 and 14% of malignant melanomas have been reported to occur in a familial pattern. In this study 785 melanoma patients from the Victorian Melanoma Service and the private practice of a dermatologist were assessed for the total number of melanocytic naevi, the number of dysplastic naevi and other clinical characteristics categorized according to whether there was a family history of melanoma. It was found that the presence of 100 or more naevi, six or more dysplastic naevi and blue eyes in a patient with melanoma were significantly associated with a family history of melanoma. Patients with two or more family members with melanoma were significantly more likely to develop melanoma at a younger age and to develop multiple melanomas. This study concludes that large numbers of melanocytic naevi and dysplastic naevi in melanoma patients are useful characteristics in practice to identify patients at risk of familial occurrence of melanoma. Family members of these patients should receive a medical assessment for their pigmented lesions.

Adult↗

PubMed2002

In their own voices: families in crisis: a focus group study of families of persons with serious mental illness.

This qualitative study employs a focus group methodology to learn more about the needs of family caregivers of persons with serious mental illness during crisis. Changes in psychiatric status or residential placement are always stressful times, for both patients and their families. But no experience has as profound an effect on families as the "first-break." While intuitively this appears to be an ideal time for intervention, few families report that they obtain the supports they need during the early years of their relative's illness. Based on dialogues with families, two sets of recommendations are presented to improve the timely provision of services and supports: one set for families and the other for mental health policymakers.

Journal Article↗

PubMed2006

Familial risks for eye melanoma and retinoblastoma: results from the Swedish Family-Cancer Database.

No systematic population-based studies have been conducted on familial eye cancers. Reliable data on familial risks are important for clinical counselling and cancer genetics. The current analysis was based on the nation-wide Swedish Family-Cancer Database on 10.5 million individuals, containing families with parents and offspring. Cancer data were retrieved from the Swedish Cancer Registry from the years 1958 to 2002, including 3636 patients with any type of eye cancer. Familial risk for offspring was defined using the standardized incidence ratio (SIR), adjusted for many variables. Ocular melanoma was detected in two parent-offspring pairs, but the SIR of 3.90 was not significant. Parental upper aerodigestive tract (2.05), left-sided colon (1.83) and male non-medullary thyroid (6.98) cancers showed an association with ocular melanoma, albeit some with a borderline significance. The SIR for leukaemia was increased when parents were diagnosed with eye melanoma. There was no evidence for the association of ocular melanoma with cutaneous melanoma. The SIR for ocular melanoma was 1.76 when a sister was diagnosed with breast cancer, but there was no increase when a mother was diagnosed with breast cancer. When both a child and the parent presented with retinoblastoma, the SIR was 900. The parents of children with retinoblastoma had an excess of small intestinal and rectal cancers and Hodgkin's disease. The present findings were based on a limited number of cases, but they display a complex and heterogeneous pattern of familial associations in ocular melanoma, including an association with breast cancer through a putative recessive mechanism.

Adult↗

PubMed2004

Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families.

PURPOSE: Benign familial infantile convulsions (BFIC) is a form of idiopathic epilepsy. It is characterized by clusters of afebrile seizures occurring around the sixth month of life. The disease has a benign course with a normal development and rare seizures in adulthood. Previous linkage analyses defined three susceptibility loci on chromosomes 19q12-q13.11, 16p12-q12, and 2q23-31. However, a responsible gene has not been identified. We studied linkage in 16 further BFIC families. METHODS: We collected 16 BFIC families, without an additional paroxysmal movement disorder, of German, Turkish, or Japanese origin with two to eight affected individuals. Standard two-point linkage analysis was performed. RESULTS: The clinical picture included a large variety of seizure semiologies ranging from paleness and cyanosis with altered consciousness to generalized tonic-clonic seizures. Interictal EEGs showed focal epileptiform discharges in six patients, and three ictal EEGs in three distinct patients revealed a focal seizure onset in different brain regions. In all analyzed families, we found no evidence for linkage to the BFIC loci on chromosomes 19q and 2q, as well as to the known loci for benign familial neonatal convulsions on chromosomes 8q and 20q. In 14 of the families, the chromosome 16 locus could be confirmed with a cumulative maximum two-point lod score of 6.1 at marker D16S411, and the known region for BFIC could be narrowed to 22.5 Mbp between markers D16S690 and D16S3136. CONCLUSIONS: Our data confirm the importance of the chromosome 16 locus for BFIC and may narrow the relevant interval.

Adolescent↗

PubMed1979

Familial cutaneous collagenoma: genetic studies on a family.

Familial cutaneous collagenoma is an inherited condition characterized by the presence of multiple dermal nodules symmetrically distributed on the trunk and upper arms. In this study, six patients, the proband, his four siblings and a niece, representing a kindred of fifty-two subjects, were examined for aymptomatic cutaneous nodules mainly on the back and chest. The individual lesions varying from a few millimetres to several centimetres in size, were indurated, and showed minimal epidermal changes. Histologically, the nodules were characterized by an excessive accumulation of dense, coarse collagen fibres in the dermis. The elastic fibres appeared diminished in number, and in some areas they were abnormally thin and fragmented. The lesions, therefore, were connective tissue naevi of the collagen type. On the basis of the family history and histological observations the patients were diagnosed as having familial cutaneous collagenoma. Examination of the family pedigree indicated that the dermal nodules in familial cutaneous collagenoma were inherited in an autosomal dominant pattern. It was also observed that the lesions had an onset at the age of 15 to 19 years, and their number increased significantly during pregnancy. It is conceivable that familial cutaneous collagenoma is an inherited condition whose expression may be under a hormonal control.

Adolescent↗

PubMed1991

Familial defective apo B-100, characterization of an Italian family.

Familial defective apolipoprotein (apo) B-100 is a genetic disorder presenting with hypercholesterolaemia and abnormal low-density lipoprotein (LDL) that binds poorly to LDL receptors. This disease appears to be caused by a mutation in the apo B-100 gene. In the present study thirteen members of a family with moderate hypercholesterolaemia (250-350 mg dl-1) were investigated. Biochemical studies on cultured skin fibroblasts ruled out classical familial hypercholesterolaemia (FH, receptor deficiency). We then studied the interaction between LDL and their receptors by an in vitro cell binding assay. LDL from nine affected members displayed a reduced affinity (2.5-fold) for the receptor, and were less effective than LDL from control and unaffected members in suppressing LDL receptor expression and in stimulating cholesterol esterification. LDL from the affected members had normal electrophoretic mobility, size and chemical composition. Partial delipidation did not modify the LDL binding defect. The disorder is transmitted over three generations as an autosomal codominant trait and all the affected members are heterozygotes and hypercholesterolaemics. Analysis of DNA from family members showed a point mutation leading to an Arg to Gln substitution at amino acid 3500 of the mature protein that segregated with hypercholesterolaemia and LDL defective binding. We conclude that this family is affected by familial defective apolipoprotein B-100 (FDB).

Adolescent↗

PubMed1990

Autosomal dominant familial spastic paraplegia: description of a large New England family and a study of management.

A large New England family with autosomal dominant familial spastic paraplegia (ADFSP) is described. In a pedigree of 173 family members, 71 affected individuals were identified. 16 cases examined by the authors are described with regard to the natural history of ADFSP in this family, and a staging system for following progress and planning interventions is proposed. Three illustrative cases are presented. In this family, ADFSP was found to have a homogeneous clinical course, with nearly complete penetrance. Onset, with involvement limited to the lower extremities, occurred by three years of age, after which no significant progression was noted. Early, aggressive habilitative care may result in more functional ambulation for the youngest family members.

Adolescent↗

PubMed2005

Familial hemiplegic migraine presenting as recurrent encephalopathy in a Native Indian family.

BACKGROUND: Familial hemiplegic migraine (FHM) is an autosomal dominant disorder, which can result from mutations in the CACNA1A (FHM1) and ATP1A2 (FHM2) genes. Typically, FHM presents with an aura of hemiplegia accompanied by a moderate-to-severe headache. FHM can be associated with other neurological findings including coma and seizures. METHODS: We describe the clinical and genetic features of a two-generation, seven-member Native Indian family with recurrent encephalopathy and FHM. RESULTS: Two of the three affected family members presented initially with encephalopathy, the third family member presented with classic episodes of migraine and hemiparesis. The CACNA1A gene locus was excluded in this family by haplotype analysis and no mutations were identified in the coding region of the ATP1A2 gene by direct sequencing. CONCLUSIONS: This emphasizes the genetic and clinical heterogeneity in familial hemiplagic migraine FHM and highlights the need to consider the diagnosis of FHM in cases of recurrent encephalopathy.

Adult↗

PubMed1975

The excretion patterns of urinary glucosaminoglycans in a family with progressive familial myoclonus epilepsy.

The urinary excretion of uronic acid and the electrophoretic composition of urinary glucosaminoglycans were studied in 10 members of a family, of which 3 had progressive familial myoclonus epilepsy. This seems to be the first detailed investigation of the excretion of urinary glucosaminoglycans in patients suffering from this neurologic disease. The uronic acid excretion was found to be increased in the affected family members exclusively, whereas the excretion of the unaffected members were found within the normal limits characterized in this investigation. The urinary glucosaminoglycans could be separated into 5 fractions by electrophoresis. One or two of these fractions were increased in the urines of the three affected family members, the clinically most affected member showing the most abnormal electrophoretic results. An abnormal electrophoretic distribution of fractions was also found in the urines of 5 other members, clinically not affected. Only the maternal part of the family (mother and maternal grandmother) was shown to have a normal electrophoretic distribution of urinary glucosaminoglycans. The implication of these electrophoretic differences in the paternal and maternal family on the conditions for the development of the disease is discussed. The two fractions in question (designated fraction-0.65 and fraction-0.71) have until now been regarded as glycoproteins, but the present results show that they are true glucosaminoglycans (acid mucopolysaccharides), probably of low sulphate content.

Adolescent↗

PubMed1989

Familial pemphigus vulgaris with oral manifestations affecting two Greek families.

Two families of Greek origin with oral pemphigus vulgaris are reported. Both are fully documented cases of familial pemphigus in Greek Mediterranean patients. In the first family, a sister and a brother developed oral mucosal pemphigus lesions within a 5-year period, and a cousin had died from the disease 20 years earlier. In the second family, a daughter, a son and their mother developed the disease 2, 4 and 6 years apart. HLA typing has been performed and disclosed striking associations and similarities between the members of each family. Review of the fully documented cases of familial pemphigus vulgaris is also presented in a tabular form.

Adult↗

PubMed2005

A new clan of CBM families based on bioinformatics of starch-binding domains from families CBM20 and CBM21.

Approximately 10% of amylolytic enzymes are able to bind and degrade raw starch. Usually a distinct domain, the starch-binding domain (SBD), is responsible for this property. These domains have been classified into families of carbohydrate-binding modules (CBM). At present, there are six SBD families: CBM20, CBM21, CBM25, CBM26, CBM34, and CBM41. This work is concentrated on CBM20 and CBM21. The CBM20 module was believed to be located almost exclusively at the C-terminal end of various amylases. The CBM21 module was known as the N-terminally positioned SBD of Rhizopus glucoamylase. Nowadays many nonamylolytic proteins have been recognized as possessing sequence segments that exhibit similarities with the experimentally observed CBM20 and CBM21. These facts have stimulated interest in carrying out a rigorous bioinformatics analysis of the two CBM families. The present analysis showed that the original idea of the CBM20 module being at the C-terminus and the CBM21 module at the N-terminus of a protein should be modified. Although the CBM20 functionally important tryptophans were found to be substituted in several cases, these aromatics and the regions around them belong to the best conserved parts of the CBM20 module. They were therefore used as templates for revealing the corresponding regions in the CBM21 family. Secondary structure prediction together with fold recognition indicated that the CBM21 module structure should be similar to that of CBM20. The evolutionary tree based on a common alignment of sequences of both modules showed that the CBM21 SBDs from alpha-amylases and glucoamylases are the closest relatives to the CBM20 counterparts, with the CBM20 modules from the glycoside hydrolase family GH13 amylopullulanases being possible candidates for the intermediate between the two CBM families.

Amino Acid Sequence↗

PubMed1992

[Family-acquired hepatitis A--prevalence of hepatitis A among the family in Aichi Prefecture, 1990].

We studied the transmission of hepatitis A virus (HAV) in 45 families, which members were diagnosed as hepatitis A in 8 hospitals in 1990. Feces and sera from 50 patients and their 126 family members were tested for HAV-specific antigen and IgM antibody by ELISA or polymerase chain reaction (PCR) technology. From the interval of the onset of hepatitis or detection of HAV antigen in feces, HAV transmission was recognized in 11 (24.4%) of 45 families. The transmission was found to be concerned with contacts of the children and that from children to parents was found in 4 families and the reverse in 2. HAV antigen was detected from feces of 4 family members before onset of icterus by ELISA and furthermore, 3 by PCR. It was indicated that these methods would be used to prevent the transmission in a family, day-care centers, or institutions for the mentally retarded.

Adolescent↗

PubMed1994

Genetic heterogeneity of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in families with familial adenomatous polyposis.

One hundred and eighteen subjects with familial adenomatous polyposis (FAP) and 80 of their relatives who were at low risk (< 0.01) of carrying the FAP gene were scored by one of us (BJ) or by colleagues to assess the frequency of congenital hypertrophy of the retinal pigment epithelium (CHRPE). A CHRPE is defined as an "oval pigmented lesion surrounded by depigmented halo". Seventy five (63.6%) of the FAP cases and one (1.2%) of their relatives had at least one CHRPE. There was no systematic difference in the number of CHRPEs in the left and right eyes so all analyses are based on total number of CHRPEs and the findings were highly correlated (p = 0.001 for a test of no correlation). There was also no evidence of any age effect in total number of CHRPEs in affected subjects. In 26 families there was more than one subject affected with FAP. There was a significant common family effect with respect to CHRPE expression for total number of CHRPEs with an F statistic of 1.73 (p = 0.02 for a test of no family aggregation) indicating that family members are more similar to each other than to affected subjects from other families. This may indicate that specific mutations play a role in determining the number of CHRPEs. Nine affected subjects had intra-abdominal desmoids, and in these the frequency of each of the types of CHRPE was no higher (in fact, slightly lower) than the average for affected subjects without desmoids, but this difference was not significant (p > 0.3).

Adenomatous Polyposis Coli↗

PubMed2004