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PubMed2001

The Twisted gastrulation family of proteins, together with the IGFBP and CCN families, comprise the TIC superfamily of cysteine rich secreted factors.

AIMS: To analyse the similarities between the Twisted gastrulation (TSG) proteins known to date; in addition, to determine phylogenetic relations among the TSG proteins, and between the TSGs and other protein families--the CCN (for example, CCN2 (CTGF), CCN1 (CYR61), and CCN3 (NOV)) and IGFBP (insulin-like growth factor binding protein) families. METHODS: TBLASTN and FASTA3 were used to identify new tsg genes and relatives of the TSG family. The sequences were aligned with ClustalW. The predictions of sites for signal peptide cleavage, post-translational modifications, and putative protein domains were carried out with software available at various databases. Unrooted phylogenetic trees were calculated using the UPGMA method. RESULTS: Several tsg genes from vertebrates and invertebrates were compared. Alignment of protein sequences revealed a highly conserved family of TSG proteins present in both vertebrates and invertebrates, whereas the slightly less well conserved IGFBP and CCN proteins are apparently present only in vertebrates. The TSG proteins display strong homology among themselves and they are composed of a putative signal peptide at the N-terminus followed by a cysteine rich (CR) region, a conserved domain devoid of cysteines, a variable midregion, and a C-terminal CR region. The most striking similarity between the TSGs and the IGFBP and CCN proteins occurs in the N-terminal conserved cysteine rich domain and the characteristic 5' cysteine rich domain(s), spacer region, and 3' cysteine rich domain structure. CONCLUSION: The family of highly conserved TSG proteins, together with the IGFBP and CCN families, constitute an emerging multigene superfamily of secreted cysteine rich factors. The TSG branch of the superfamily appears to pre-date the others because it is present in all species examined, whereas the CCN and IGFBP genes are found only in vertebrates.

Animals↗
PubMed1982

Familial multiple myeloma. A review of thirty-seven families.

The review of the pertinent literature disclosed 36 reports of familial multiple myeloma, described mostly in siblings, to which the authors add one more family. These patients did not differ significantly from those with non-familial myeloma with regard to sex, age, distribution of monoclonal proteins, clinical and laboratory data, and the course and prognosis of the disease. An increased incidence of immunoglobulin abnormalities was observed in healthy relatives of patients affected with familial myeloma. In most cases the time interval of the diagnosis of myeloma in a family member of a known patient was under 4 years. These observations, in conjunction with reports of myeloma occurring in clusters in a community and the appearance of myeloma in spouses raise the possibility of an environmental factor (virus?) which may contribute to the pathogenesis of myeloma in genetically predisposed individuals. Multiple myeloma should be added to the list of neoplastic diseases in which the family history is relevant and in which genetic and possibly environmental factors may be pathogenetically involved.

Aged↗
PubMedDate not supplied

Familial associations of lipids and lipoproteins in families of hypercholesterolemic probands.

We used the Princeton School Family Study hypercholesterolemic recall group to assess whether, and to what degree, the identification of hypercholesterolemic subjects could be improved through the phenomenon of familial lipid and lipoprotein aggregation. A second aim was to assess whether within-family lipid and lipoprotein correlations outlasted the period of shared family environment. Approximately twice as many (as expected) siblings and offspring of hypercholesterolemic probands had plasma total and low density lipoprotein cholesterol levels greater than the 90th and 75th percentiles respectively, emphasizing how identification of hypercholesterolemic subjects can be facilitated by use of the phenomenon of familial aggregation of plasma total and low density lipoprotein cholesterol. After exclusion of the hypercholesterolemic probands from calculations of within-family correlations, and use of natural log transformations for the probands' first-degree relatives' lipids as required, most father/pediatric offspring and mother/pediatric offspring correlations for lipids and lipoprotein cholesterols were significant, while most parent/adult offspring correlations were not significant. All pediatric sibling correlations for lipids and lipoprotein cholesterols were significant; most adult sibling correlations were not significant. The loss of significance and consistency in sibling and parent/offspring lipid and lipoprotein correlations in adults who no longer shared a common household environment points to environmental influences on total, high, and low density lipoprotein cholesterol in kindreds with a hypercholesterolemic proband.

Adult↗
PubMed1993

Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families.

Generalized resistance to thyroid hormone (GRTH) is a syndrome of variable reduction of tissue responsiveness to thyroid hormone. 28 different point mutations in the human thyroid hormone receptor beta (TR beta) gene have been associated with GRTH. These mutations are clustered in two regions of the T3 binding domain of the TR beta (codons 310-347 and 417-453). We now report point mutations in the TR beta gene of six additional families with GRTH and show that three mutations occurred each in three families with GRTH, and that three other mutations were each present in two families. In 11 of these 15 families, lack of a common ancestor could be confirmed by genetic analysis. 28 of the 38 point mutations so far identified, including all those occurring in more than one family, are located in cytosine-guanine-rich areas of the TR beta gene. Differences in clinical and laboratory findings in unrelated families harboring the same TR beta mutation suggest that genetic variability of other factors modulate the expression of thyroid hormone action.

Base Composition↗
PubMed2005

Familial risk for non-Hodgkin lymphoma and other lymphoproliferative malignancies by histopathologic subtype: the Swedish Family-Cancer Database.

Non-Hodgkin lymphoma (NHL) consists of a heterogeneous group of tumors. Population-based data on the familial risk for specific histopathologic subtypes have not been established. Such data are useful for clinical counseling and for searching tumor subtypes sharing common genetic pathways. We used the Swedish Family-Cancer Database to calculate standardized incidence ratios (SIRs) for histopathology-specific subtypes of NHL in 4455 offspring with NHL whose parents or siblings were affected with different types of lymphoproliferative malignancies. A familial history of NHL significantly increased the risk for NHL (SIRparent = 1.8; SIRsibling = 1.9) and for diffuse large B-cell lymphoma (SIRparent = 2.3), follicular lymphoma (SIRsibling = 2.3), and B-cell lymphoma not otherwise specified (NOS) (SIRsibling = 3.4). For a parental history of histopathology-specific concordant cancer, the risks were significantly increased for diffuse large B-cell lymphoma (SIR = 11.8), follicular NHL (SIR = 6.1), plasma cell myeloma (SIR = 2.5), and chronic lymphocytic leukemia (SIR = 5.9). Familial clusters for NHL seemed stronger in females and in siblings. Our study provides the first quantification of the familial risks for NHL by histopathology. The present findings give evidence for a strong familial association of NHL, with little differences in the magnitude of risks for various histopathologic subtypes. The patterns of risks in parents and siblings support the hypothesis of an autosomal-dominant component for diffuse large B-cell NHL and a recessive one for follicular NHL.

Adult↗
PubMed2004

Cultural considerations in understanding family violence among Asian American Pacific Islander families.

There has been much research conducted in the area of family violence, however, there is a paucity of research specifically addressing family violence in Asian American and Pacific Islander (AAPI) communities. Because AAPIs are regarded as the model minority, many have the misconception that family violence does not exist in this population. This article examines Asian cultural beliefs and values to gain a better understanding of Asian attitudes towards family violence. A more in-depth exploration of the Cambodian and Vietnamese cultures regarding attitudes towards violence is included because of the higher tolerance of family violence among these 2 cultures than other Asian cultures. Public health nurses working with AAPI families can provide culturally appropriate care by taking Asian attitudes, values, and beliefs into account when developing nursing interventions with victims of abuse.

Asian↗
PubMed1982

Familial occurrence of cerebellar hemangioblastomas--analysis of five families.

Characteristic features of familial cases of cerebellar hemangioblastoma were analyzed on the basis of 54 patients, 32 male and 22 female. In this group there were 7 cases from five affected families. The overall recurrence rate was 33.3% among patients who had been followed for more than 4 years after total removal of the tumor. Recurrence was more common in the familial cases (50%). The average age at the onset of symptoms was younger (23.4 years) in familial cases than in nonfamilial cases (36.2 years) and tended to be even younger (18.9 years) in the second generation of familial cases. These findings suggest that the integration of primitive vasoformative tissues is disturbed more severely in familial cases of cerebellar hemangioblastoma.

Adolescent↗
PubMed1998

Germ line mutation analysis in families with multiple endocrine neoplasia type 2A or familial medullary thyroid carcinoma.

The RET proto-oncogene has been identified as the multiple endocrine neoplasia type 2 disease gene. An association between specific RET mutation and disease phenotype has been reported. We present the phenotype-genotype of 12 Greek families with multiple endocrine neoplasia type 2A (MEN 2A) or familial medullary thyroid carcinoma (FMTC). Seventy members were studied and DNA analysis for RET mutations was performed in fifty-eight of them. Exons 10, 11, 13, 14 and 16 of the RET proto-oncogene were analyzed by single strand conformation polymorphism analysis, direct DNA sequencing and/or restriction enzyme analysis. No mutations of the RET proto-oncogene were identified in 1 of 9 families with MEN 2A and in the 3 families with FMTC. In 7 MEN 2A families, the mutation was demonstrated in codon 634 and in 1 family it was demonstrated in codon 620. There was a low frequency, about 8%, of hyperparathyroidism associated with MEN 2A. The specific causative mutations for pararthyroid disease were C634R or C634Y. Among the MEN 2A individuals there was one case with de novo C634R mutation and one case, C634Y, with cutaneous lichen amyloidosis which predated by 24 years the diagnosis of MEN 2A. In 2 children who were MEN 2A gene carriers, microscopic medullary thyroid carcinomas were found. These data show a low frequency of hyperparathyroidism in our cases and provide further evidence that individuals with C634R as well as with C634Y mutations of the RET proto-oncogene could be at risk for parathyroid disease. Cutaneous lichen amyloidosis could be an early feature of MEN 2A. Additionally, direct DNA testing provided an opportunity to resect medullary thyroid carcinoma at an early stage.

Adolescent↗
PubMed1985

Familial hemophagocytic lymphohistiocytosis: report of four cases in two families and review of the literature.

Four cases of familial hemophagocytic lymphohistiocytosis (FHL) from two families with first cousins affected in family and siblings in another are presented. The pathological findings, including neuropathology, transmission (TEM), and scanning electron microscopy (SEM), are discussed. This is the first study of this condition to include TEM and SEM. One hundred and fifty-nine cases from the literature, including the author's four cases, are reviewed. The familial occurrence in 116 instances in sibships and consanguinity in 13 of the 73 families support autosomal-recessive inheritance. In five families there were affected first cousins--an observation not readily explained by autosomal-recessive transmission. We suggest that the genetic aspects of FHL be more fully explored and that in future cases parents and other relatives be included in the hematologic, immunologic, and genetic evaluation.

Blood Cells↗
PubMed1994

Potential sequelae of family history of depression. Identifying family members at risk.

1. There is increasing evidence that depressed clients with and without a family history of depression differ on several clinical features, such as learned resourcefulness, depressed cognitions, and coping capabilities. Subjects reporting a family history of depression do not differ from those with no familial depression in demographic characteristics, severity of depression, or adaptive functioning. 2. Depressed inpatients with a history of family depression, however, are significantly less resourceful and less optimistic than their counterparts with no family history of depression. 3. As resourcefulness and optimism are believed to be learned, nursing interventions for teaching specific skills would be particularly useful in preventing depression and promoting mental health for family members who are at risk for clinical depression.

Adaptation, Psychological↗
PubMed1997

Clinical spectrum of familial Hibernian fever: a 14-year follow-up study of the index case and extended family.

OBJECTIVE: To determine the clinical spectrum and natural history of the disease "familial Hibernian fever" (FHF). DESIGN: We ascertained the disease status in all 54 living members and 9 deceased members of the extended family and conducted a detailed study of those affected. MATERIAL AND METHODS: All family members with FHF were clinically assessed and investigated fully, including human leukocyte antigen (HLA) typing. Medical records were studied for relevant clinical features, drug therapy, and complications. All previously obtained histologic specimens were reviewed. Three typical case histories are presented. RESULTS: The updated family tree confirmed an autosomal dominant mode of inheritance in 16 living members with FHF. In addition to the febrile attacks, abdominal pain and localized myalgias were almost invariably present. Episodic erythematous patches, conjunctivitis, and unilateral periorbital edema were also notable features. Of 10 affected male family members, 8 had inguinal hernias (in comparison with 1 of 21 unaffected male family members). No association with HLA status was noted. Secondary amyloidosis was found in one affected member. CONCLUSION: The characteristic clinical features and natural history of FHF distinguish it from other periodic fever syndromes. The discovery of amyloidosis related to FHF alters the prognosis associated with this condition and emphasizes the need to search for effective treatment strategies. The high prevalence of inguinal herniation may provide clues about its pathogenesis.

Adult↗
PubMed1999

The Psychiatric Family Nurse Practitioner: A Collaborator in Family Practice.

The potential of the psychiatric family nurse practitioner (Psych.F.N.P.) to contribute to family practice through physical care and mental health care exists in the here and now. This role is a synthesis of 2 advanced practice roles, the psychiatric clinical nurse specialist (Psych.C.N.S.) and family nurse practitioner (F.N.P.), both of which continue to have great utility independently. This synthesis is a practical application of concepts that have evolved to meet the changing patterns of health care delivery. At this time, dual certification as a Psych.C.N.S. and F.N.P. best reflects the broad practice expertise of the psychiatric family nurse practitioner. The experienced psychiatric family nurse practitioner provides direct care for both physical and psychological needs of patients in a family practice setting.

Journal Article↗
PubMed2000

Cancer risk estimates for family members of a population-based family registry for breast and ovarian cancer.

Population-based breast and ovarian cancer family registries can facilitate studies to evaluate genetic and environmental factors in the etiology of these malignancies. The purpose of this study is to describe what is, as far as we know, the first population-based breast and ovarian cancer family registry and to estimate breast and ovarian cancer risk in relatives of breast and ovarian cancer probands. Population-based consecutive incident cases of breast and ovarian cancer were invited to participate in the University of California, Irvine breast and ovarian family registry. In this study, we report data on 1567 breast cancer and 328 ovarian cancer probands. The operational components of this family registry include enrollment of probands, family history interviewing, confidentiality, pathology, verification and review, biospecimen bank, statistical/genetic analysis, and special studies on positional cloning of known genes. All of the components are tracked through the University of California, Irvine Genetic Research Information System. In non-Hispanic-white breast cancer probands, relative risk (RR) of breast cancer in mothers and sisters is significantly elevated [RR = 1.7 and 95% confidence interval (CI) = 1.4-2.0 and RR = 2.8 and 95% CI = 2.3-3.3, respectively]. In families of ovarian cancer probands, mothers are at increased risk of ovarian cancer (RR = 4.6; 95% CI, 2.1-8.7). RR of breast cancer in mothers of Hispanic breast cancer probands is significantly elevated (RR = 4.9; 95% CI, 2.6-8.5). No elevation of breast or ovarian cancer risk was observed among relatives of Asian probands. In general, there is a decrease in RR among mothers and sisters with increase in age of onset of probands. In second-degree relatives and first cousins, the breast cancer hazards ratios increase with increase in the number of affected first-degree relatives and decrease with increase in age at onset of the proband.

Adult↗
PubMed2001

Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia.

BACKGROUND: Familial hypercholesterolemia (FH) and familial defective apolipoprotein B-100 (FDB) represent ligand-receptor disorders that are complementary. Individuals with both FH and FDB are unusual. We report a family with both disorders and the impact of the mutations on the phenotypes of the family members. METHODS: We used single strand conformation polymorphism (SSCP) and denaturing gradient gel electrophoresis (DGGE) for genetic analysis of all 18 exons and the promoter region of the LDL receptor and DGGE for genetic analysis of the apolipoprotein B-100 (apo B-100) gene. The functional significance of the apo B-100 mutation was studied using a U937 cell proliferation assay. Fasting serum lipid profiles were determined for the index case and seven first-degree relatives. RESULTS: One of the patient's sisters had a missense mutation (Asp(407)-->Lys) in exon 9 of the LDL receptor and a serum LDL-cholesterol concentration of 4.07 mmol/L. Four other first-degree relatives had hyperlipidemia but no LDL-receptor mutation. However, these subjects had a mutation of the apo B-100 gene (Arg(3500)-->Trp). The cell proliferation rate of U937 cells fed with LDL from other subjects with the same mutation was fourfold less than that of controls. The index case had both FH- and FDB-related mutations. Her serum LDL-cholesterol (9.47 mmol/L) was higher than all other relatives tested. CONCLUSIONS: Existence of both FH and FDB should be considered in families with LDL-receptor mutations in some but not all individuals with hypercholesterolemia or when some individuals in families with FH exhibit exaggerated hypercholesterolemia.

Adolescent↗
PubMed2001

Familial bladder cancer in the National Swedish Family Cancer Database.

PURPOSE: We analyzed the risk of bladder cancer in offspring according to parental and sibling cancer using the national Swedish Family Cancer Database. MATERIALS AND METHODS: Cancer data were obtained from the Swedish Cancer Registry for 1958 to 1996, including 2,105 cases of bladder cancer in offspring. The standardized incidence ratio was used to measure cancer risk in offspring according to familial cancer status. RESULTS: The incidence ratio of bladder cancer increased in Sweden from 1958 to 1996 and it was 3 to 4-fold higher in males than in females. We identified 65 families in which the parents and offspring had bladder cancer with a familial risk of 1.35 (95% confidence interval [CI] 0.97 to 1.79) in sons and 2.29 (95% CI 1.46 to 3.29) in daughters. Discordant cancer sites associated with bladder cancer in the 2 generations were the kidney and thyroid with a standardized incidence ratio of 1.58 (95% CI 1.18 to 2.05) and 1.89 (95% CI 1.00 to 3.05), respectively. Sibling risk was higher compared with offspring risk with a standardized incidence ratio of 2.96 (95% CI 1.41 to 5.08) and in males there was a statistically significant ratio of sibling-to-offspring risk of 2.66 (95% CI 1.29 to 5.45). Patient age at onset modified the familial risk. The highest familial risk of 7.26 (95% CI 2.61 to 14.24) was observed in the brothers of bladder cancer probands diagnosed before age 45 years. CONCLUSIONS: The relatively high ratio of sibling-to-offspring risk as well as observed gender specific effects in bladder cancer may reflect an X linked susceptibility gene.

Adolescent↗
PubMed2003

A Chinese family with familial dysalbuminaemic hyperthyroxinaemia.

We report the results of biochemical and genetic studies in a Chinese family with familial dysalbuminaemic hyperthyroxinaemia. Total thyroxine levels were 1.2 to 1.7 times the upper limit of the reference range and free thyroxine levels were 1.2 to 1.6 times the upper reference limit. Concentrations of thyroid-stimulating hormone (thyrotropin) and free tri-iodothyronine were normal in all family members tested. Overall, thyroid function tests showed high total thyroxine levels in five males and two females over two generations in the family. The diagnosis of familial dysalbuminaemic hyperthyroxinaemia was confirmed by the detection of a guanine to adenine missense mutation in the second nucleotide of codon 218 of the gene encoding human serum albumin, showing that the mutation in this family is the same as that previously found in Caucasian populations.

Adult↗
PubMed2003

[A novel mutation of KCNQ2 gene in a Chinese family with benign familial neonatal convulsions].

OBJECTIVE: To diagnose a Chinese benign familial neonatal convulsions (BFNC) family at the level of gene and investigate its molecular pathogenesis. METHODS: All family members were studied by clinical examinations and linkage analysis. Mutation analysis of KCNQ2 gene was made by means of polymerase chain reaction (PCR)-direct sequencing and PCR-single strand conformation polymorphism (SSCP) in the proband, 16 family members and 72 unrelated normal individuals. RESULTS: Linkage analysis hinted the linkage of BFNC to KCNQ2, while the linkage to KCNQ3 was excluded. Mutation 1931delG of KCNQ2 gene was found in the proband by DNA-direct sequencing. The same SSCP variant as the proband's was showed in the rest affected members of this family but not in the unaffected members of this family and all of the 72 unrelated normal individuals. CONCLUSION: 1931delG of KCNQ2 gene can cause BFNC in China and is novel mutation. The combination of linkage analysis and gene analysis is useful for gene diagnosis.

Epilepsy, Benign Neonatal↗
PubMed2004

[A family-based strategy for diagnosing familial hypercholesterolemia].

BACKGROUND: Patients with familial hypercholesterolaemia have increased risk of developing coronary heart disease. The most cost-effective way of diagnosing patients with familial hypercholesterolaemia is to perform genetic testing of close relatives of already diagnosed patients. MATERIAL AND METHODS: Probands with familial hypercholesterolaemia in whom the underlying mutation in the low-density lipoprotein receptor gene has been identified were informed that close relatives should also be tested. RESULTS: Blood samples were taken for molecular genetic testing from 851 first-degree relatives of patients with familial hypercholesterolaemia; 47.8 % tested positively and 52.2 % negatively. Among those with positive tests, only 41.5 % were on lipid-lowering drugs and only 6.1 % had a value for total serum cholesterol < 5 mmol/l. Six months after testing, 81.9 % were on lipid-lowering drugs, at which time a mean reduction in total serum cholesterol of 21.2 % (p < 0.0001) was observed in patients aged 18 and above who were not on treatment at the time of testing. INTERPRETATION: Molecular genetic testing for familial hypercholesterolaemia in a family-based strategy is a cost-effective way of diagnosing patients with this condition that leads to implementation of effective preventive measures.

Genetic Predisposition to Disease↗