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PubMed2005

[Familial pedigree analysis of Shen-yin deficiency syndrome in families with type 2 diabetes mellitus GU].

OBJECTIVE: To analyse the familial aggregation and genetic predisposition of Shen-yin deficiency syndrome (SYDS) in families with diabetes mellitus type 2 (DM2). Methods One hundred and forty-one DM2 patients were collected from 32 family lines in Nanjin area, in which the probands were differentiated as DM2 with SYDS. On them, genetic analysis on the characteristics of SYDS was conducted using pedigree analysis, morbidity and heritability of the first-degree relatives of the probands were calculated, and the action of familial SYDS factor on the genesis of the syndrome was assessed by multiple factors regression analysis. Results The morbidity rate of SYDS in the first-degree relatives of the probands was 33.71%, and the heritability, calculated by Falconer formula, was 80.6%. The fitting result of regression analysis showed that familial factor played an important role in SYDS genesis (OR = 5.61, P = 0.001), but DM2 itself is not an independent risk factor for it. Conclusion DM2 with SYDS shows the tendency of familial aggregation and genetic predisposition, genetic factor is associated with the genesis of the syndrome. Pedigree research is a good method for exploring the relationship between syndrome and genetic factor.

Adult↗
PubMed2006

[A compound heterozygote family of familial hypercholesterolemia due to new mutations].

OBJECTIVE: To investigate the molecular diagnosis method and possible molecular mechanism of the etiology of a hereditary genetic hypercholesterolemia family by scanning and analyzing the related genes of hereditary hypercholesterolemia in a clinically diagnosed proband and his family members. METHODS: Molecular diagnosis was performed with PCR and then DNA sequencing of the promoter and 18 exons of low-density lipoprotein receptor (LDLR) gene and 3500 - 3531 fragment of apolipoprotein B-100 gene was carried out. The sequencing results were compared with the normal nucleotide sequence queried from the GeneBank database to discover the mutations. RESULTS: Familial defective apolipoprotein B-100 was excluded, as no mutation was detected in the apolipoprotein B 3500 - 3531 fragment. Two new point mutations were detected in the exon 4 of the proband's LDLR gene, they were heterozygous 685delA (Del A at 685) and 386A > G. The sequencing in his parents and other family members showed that the two mutations were paternal origin (685delA) and maternal origin (386A > G) respectively and should be located in different alleles of the proband. CONCLUSION: Molecular diagnosis in the family shows that the proband is a compound heterozygote and the newly detected LDLR gene mutations of 685delA and 386A > G are the possible molecular etiological basis of the disease in this family.

Age of Onset↗
PubMed1989

[Genetic studies of Duchenne muscular dystrophy families using the dystrophy families using the dystrophin cDNA].

The cDNA probes for the Duchenne muscular dystrophy (DMD) gene can detect deletions in over 50% of affected males and provide a highly accurate diagnostic test in the affected families. We present the results of our recent molecular genetic studies of five DMD families (six affected males and 16 non-affected family members) by using the dystrophin cDNA. Five molecular deletions were identified in the DNA samples of six affected males by studying abnormalities of Hind III and Bgl II fragments detected by the entire dystrophin cDNA. We could not find any abnormality in a family by the same DNA analysis. Deletion was found at two different loci; in two of six probands, it was located near 5' region of the gene seen by cDNA segment 1-2 a, while in the other three, near the center of the gene covered by cDNA segment 8. In three females of the five families, we detected novel fragments, the size of which was altered due to molecular deletion. These results greatly facilitated diagnosis of the carrier status in females. We studied also the dystrophin location in the biopsied skeletal muscle (femoral muscle) in a family, by means of indirect immunofluorescence staining using antiserum against dystrophin. Dystrophin was positive in the surface membrane of muscles from a non-affected brother, mother and sister, but it was absent in the muscle from a DMD proband.

DNA Probes↗
PubMed1985

[Familial myeloproliferative syndrome (study of 4 families and review of the literature)].

The authors describe 4 families whose members showed myeloproliferative diseases. In one of the families, polycythemia vera (PV) was seen in twin brother and sister, in the other one, chronic myeloleukemia (CML) afflicted both daughter and mother, and in the two remaining families PV and CML afflicted two brothers and mother and daughter, respectively. It was established that neutrophil phosphatase activity was lowered not only in the afflicted brother but also in healthy members of the third family. Based on the reported and their own data the authors arrive at the conclusion that familial myeloproliferative diseases occur in rare cases. In all the cases of familial myeloproliferative diseases, the transmission of the illness by heredity was discovered to be impossible. It was also ascertained that transmitted by heredity are only those cell deficiencies of the tissues that later on will be afflicted by leukemia or will develop immunodeficiency manifested by increased mutation of the myelopoietic cells (DNA repair deficiencies) or by inability to eliminate the leukemic cells.

Adult↗
PubMed1979

Nature and familial character of lepromin sensitivity in 27 families and their siblings.

A group of 27 families consisting of 176 individuals had been investigated for the lepromin sensitivity (with Dharmendra antigen). The families were arranged under group A (9 families) in whom either of the parents or both were suffering from Lepromatous type of leprosy, group B numbering 4 families, of whom either of the parents or both were suffering from non-lepromatous type of leprosy and group C comprising 14 families where none of the parents was suffering from leprosy but some of the each family had the disease in their siblings. The present study points towards the possible genetic influence on lepromin sensitivity but at times may be influenced by the environmental factors. However the study does not permit to reach any valid conclusions; further elaborate investigations alone could prove the useful role of genetic influence in the propagation of lepromin sensitivity to the subsequent sibs.

Adolescent↗
PubMed1983

Familial benign hypercalcaemia. Study of a large family.

Twenty-seven hypercalcaemic subjects were identified in three generations of a family. There were no clinical complications of chronic hypercalcaemia, but five had had parathyroid surgery which was unsuccessful in four. Twenty of the twenty-seven subjects were compared with twenty-four normocalcaemic controls from the same family and the findings were also compared with those from forty patients with surgically proven primary hyperparathyroidism. The relation between the serum and urinary calcium levels was studied by means of an oral calcium loading test. The ratio of calcium clearance to creatinine clearance was normal in this family (but elevated in the patients with primary hyperparathyroidism) and the concentration of parathyroid hormone was normal, as was the total urinary excretion of cyclic AMP. Thus, there was no evidence of either suppressed or increased parathyroid activity in this familial condition. Basal urinary calcium excretion was normal under steady-state conditions indicating that the hypercalcaemia could not be attributed to either increased bone resorption or increased calcium absorption from the gut. In accordance with this, the serum levels of 1,25-dihydroxycholecalciferol were normal. The hypercalcaemia in this condition can be accounted for in full by an increase in renal tubular reabsorption of calcium, and thus differs from that of primary hyperparathyroidism in which there is increased production of calcium from gut and/or bone as well as an increase in renal tubular reabsorption of calcium. Although the serum phosphate and renal tubular reabsorption of phosphate were both low in patients with familial benign hypercalcaemia, they were not as low as in patients with the same degree of hypercalcaemia due to primary hyperparathyroidism. The changes in phosphate transport in familial benign hypercalcaemia could be explained as a secondary effect of the increased filtered load of calcium in the kidney. The tendency towards hypermagnesaemia in our patients, which contrasts with a tendency towards hypomagnesaemia in primary hyperparathyroidism, could also be explained as a secondary effect of the abnormality of renal tubular reabsorption of calcium. Increased renal tubular calcium reabsorption and persistent normal functioning of the parathyroid glands in the face of hypercalcaemia remain the sole definite abnormalities of the syndrome.

Adolescent↗
PubMed1978

[Familial sarcoidosis. 4 cases in 2 families].

Among the patients of the Bundeswehrzentralkrankenhaus Koblenz two new cases of familial sarcoidosis with two cases each became known from Nov. 1977 to Feb. 1978. These cases are reported with typical x-ray-findings. The above mentioned short period of time for finding two new cases of familial sarcoidosis seems extraordinary, as in the world literature on sarcoidosis until today only 114-150 cases are reported. "Sarcoidosis" is described referring to the newer literature. Possible causes for acquiring sarcoidosis are discussed. Specific research by the disciplines social medicine, genetics, and hygiene of the families suffering from familial sarcoidosis is proposed, in order to analyze genetic disposition and/or environmental factors. Long-term supervision of the families afflicted with familial sarcoidosis is proposed.

Adult↗
PubMed1995

The use of DNA markers in the pre-clinical diagnosis of familial adenomatous polyposis in families in South Africa.

Haplotype association studies were performed in 10 unrelated South African families and 1 German immigrant family with familial adenomatous polyposis (FAP). Three DNA probes, recognising five restriction fragment length polymorphisms (RFLPs) around the gene locus for FAP on chromosome 5q, were used. The RFLP analysis was informative or partially informative in all the families studied. Five haplotypes were found to segregate with the disease locus. The predominant association of two of these haplotypes with FAP in the South African families suggests that two mutations may cause the disease in about 70% of families in this population. Meiotic recombination events were detected between the FAP gene and probe M4 (D5S6), but not probes Pi227 (D5S37) and C11p11 (D5S71). Haplotype analysis allowed the preclinical diagnosis of FAP in 5 subjects.

Adenomatous Polyposis Coli↗
PubMed1993

[Familial cancer of the ovary. A family with 6 index cases].

Greggi and Kerlikowske have worked out that a woman has a 1.4% chance of developing ovarian cancer during her life. When cancer of the ovary is found, 5 to 10% of these cases have a familial form of this pathology. Thus there are some hereditary forms of cancer of the ovary and Lynch has demonstrated that there are three types of hereditary associations with ovarian neoplastic pathology: specific familial cancer of the ovary, cancer of the ovary associated with endometrial cancer and with non-polypoidal cancer of the caecum and rectum, cancer of the ovary associated with cancer of the breast. The clinical material we are presenting here is of the first type of association and we are reporting the study of a family in which 6 members in two generations had cancer of the ovary and of whom one had cancer of the breast as well. Familial cancer of the ovary shows different characteristics coming on as it does earlier (ten years earlier) and with a shorter length of survival (1.8 as against 5 years). The risk of the next generation having ovarian neoplastic pathology is clear because there is a 50% chance in a patient who has a history of cancer of the ovary in at least two first degree relatives. For most daughters when this type of familial cancer is found it is justifiable to carry out prophylactic oophorectomy from the age of 35 year onwards. Particular supervision should be carried out for patients who are members of a family where 2 index cases have been found within 20-35 years.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMedDate not supplied

Families as "faculty": parents educating caregivers about family-centered care.

The Family Faculty program of The Children's Hospital of Philadelphia trains parents of children with special health care needs to present classes on family-centered care to physicians, nurses, and other hospital staff. Content of the classes weaves together the philosophy of family-centered care with individual family stories that relate the family's experience of illness as well as their care needs. Over the first year of its existence, the program educated over 900 employees in a 3,500-member workforce. Evaluation responses to the program have been uniformly positive. Educating caregivers about family-centered care through the stories and perspectives of parents enriches inservicing about communication and collaboration.

Caregivers↗
PubMed1998

[Incidence of familial defective apolipoprotein B-100 in cases of patients diagnosed with familial hypercholesterolemia].

Familial Hypercholesterolemia (FH) and Familial Defective Apolipoprotein B-100 (FDB) are monogenic, autosome, dominantly inherited diseases appearing as type II/a primary hypercholesterolemia. The frequency of the heterozygositic forms is 1:700-1:500 in European population. Both forms of hypercholesterolemia causes early onset coronary heart diseases (CHD). According to the recommendations of the international MED-PED program (Make Early Diagnoses--Prevent Early Death), we found 73 FH cases and their 377 first relatives (parents, siblings, children) were also assessed. 156 patients were diagnosed clinically FH (131 alive and 25 deceased), and 31.8% of the males and 32.4% of females suffered from early onset CHD. One family with FH consists of 5.46 members on the average and there are 2.39 FH patients in one family. In our FH cohort four patients with FDB (R3500Q mutation) were diagnosed with allelspecific PCR, and the mutation was detectable also in 9 cases out of 11 living family members. The plasma total cholesterol level of the FDB patients--especially at younger age--was very close to the normal values, which is in contrast to the findings in FH patients. Nevertheless, FDB can be one of the independent causes of the early onset CHD. Therefore, in families with high frequency of cardiovascular diseases the R3500Q mutation has to be considered.

Adult↗
PubMed1997

[Familial aggregation in 91 families of hypercholesterolemic children].

OBJECTIVE: The aim of this study was to evaluate both the importance of the screening strategy and the familial aggregation characteristics of families with hypercholesterolemic children. PATIENTS AND METHODS: Ninety-one families (369 subjects) with one hypercholesterolemic child were studied. In addition to clinical and general biochemical evaluation, lipids including apo A-I and B-100 were examined. LDL was quantified under ultracentrifugation. RESULTS: Among the 91 children studied, 10 (10.99%) suffered heterozygous hypercholesterolemia, while 81 (89.01%) suffered polygenic hypercholesterolemia. Following a diet, polygenic children exhibited normal lipid parameters. In heterozygous children a decrease of 19% for total cholesterol, 19.9% for LDL-cholesterol and 16.3% for apo B were observed. When starting the study, 77.5% of the family members thought that they had normal serum lipid values. At the end of the study it was confirmed that only 28% were really normolipemic, indicating that 49.4% of the individual did not know that they were suffering dyslipemia. The study also showed that fathers exhibited the highest incidence of hypercholesterolemia (80.2%) followed by brothers (65.6%) and mothers (61.5%). Therefore, 69.4% of the individuals studied exhibited dyslipemia. CONCLUSIONS: The screening strategy allows one to diagnose a high percentage (almost 50%) of individuals suffering hypercholesterolemia in families with a child previously diagnosed of this pathology. Moreover, in these families there is a high degree of familiar aggregation of dyslipemia.

Adolescent↗
PubMed2005

Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family.

BACKGROUND: A family with a complicated constellation of neurologic findings, including neuropathy, myotonia, and periodic paralysis, has been described in 4 studies in the medical literature since 1934. The underlying cause of their disease has been the subject of considerable speculation and has never been identified until now. OBJECTIVE: To identify the molecular basis of this family's neurologic disease. DESIGN: The coding regions of 6 genes that cause peripheral neuropathy and regions of the muscle sodium channel gene (SCN4A) were sequenced. RESULTS: A novel missense mutation (Arg67Pro) in the myelin protein zero gene was identified in 2 patients with Charcot-Marie-Tooth disease, and a common missense mutation (Thr704Met) was identified in the SCN4A gene in 4 family members. We discuss the difficulties of genotype-phenotype correlation in this family. CONCLUSIONS: These findings indicate that 2 independent mutations segregating in this family are responsible for the puzzling clinical picture.

Adolescent↗
PubMed1997

Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families.

Familial hypokalemic periodic paralysis (hypoPP) is an autosomal dominant disorder characterised by episodic attacks of paralysis of varying severity. Recently, linkage was found to markers in 1q31-32 and to the gene encoding the muscle DHP-sensitive calcium channel alpha 1-subunit (CACNL1A3). Subsequently, three mutations in this gene were identified in patients with hypoPP: Arg528His, Arg1239His and Arg1239Gly. In this study, two different mutations were found in the CACNL1A3 gene in 13 Scandinavian families, 10 of whom have the Arg528His mutation while 3 families have the Arg1239His. Furthermore, there is evidence of a founder effect in 8 of the 9 Danish hypoPP families investigated, consisting of haplotypes of microsatellite markers close to and within the CACNL1A3 gene and of the geographic origin of the families. For the first time, reduced penetrance in males with the Arg528His mutation was found in several cases.

Adolescent↗
PubMed2000

Gender differences in socioeconomic returns to family migration in Malaysia: the role of family decision making versus labor market stratification.

In this article the author examines gender differences in the effect of family migration on socioeconomic attainment in Malaysia. The analysis discerns the relative importance of gender roles in household migration decisions, compared to gender stratification in the labor market. The Malaysian economy has undergone rapid industrialization and great structural changes which have opened up new economic opportunities, particularly for women. Despite the somewhat advantaged position of women compared to men in the Malaysian labor market, the author finds that men experience much greater socioeconomic gains than women from family migration. Hence indicating that family migration decisions in Malaysia, rather than optimizing family gains, compensate for the gender effect in the labor market. However, the gains of Malaysian men are more assured when they move alone. Data for the study come from the second round of the Malaysian Family Life Survey.

Asia↗
PubMed2001

Assessment of strategies in families tested by Finnish families.

The aim of this paper was to describe testing a Finnish version of the assessment of strategies in families (ASF) instrument and its construct validity and reliability in Finnish families. The ASF instrument is based on Friedemann's framework of systemic organization and the version used in this study consists of 25 items, each containing three statements. The instrument was developed to estimate family functioning in reaching the four targets of the framework of systemic organization. It provides sub-scores for the targets, family stability (system maintenance and coherence), family growth (system change and individuation), control (system maintenance and system change) and spirituality (individuation and coherence). Data were collected from patients attending the outpatient clinics of pulmonary and rheumatic diseases (N=196). Questionnaires were given to patients capable of understanding the questions and they returned questionnaires by mail directly to researchers. Construct validity was tested with exploratory factor analysis. Factor analysis was done with 22 items. The four factor solution was best suited. Two items were eliminated because of low factor loadings and crossloading. The total of 20 items were left in the instrument. Crohnbach's alpha was used to measure internal consistency. It was computed for each target separately and the total tool. There were discrepancies in the assignment of process dimensions which were expected because of cultural perceptions. The total instrument had a reliability of 0.85. The result of the analyses was a pretested tool with subscales for stability, growth, control and spirituality that have acceptable reliability and concept validity. Less satisfactory was the small number of items representing individuation. Another weakness is the lack of statistical distinction between system maintenance and coherence. The instrument is also usable in these subscales, but it needs further development and retesting. Items need to be added to express individuation, possibly some others. The new items will be formulated freely, paying attention to culture. However, the tool appears good enough to be used as measurement in various research studies.

Adaptation, Psychological↗
PubMed2001

The Family Response Questionnaire: a new scale to assess the responses of family members to people with chronic fatigue syndrome.

OBJECTIVE: Family responses to patients with chronic fatigue syndrome (CFS) may influence the course of the disorder and family members themselves are likely to be adversely affected. However, the beliefs and responses of relatives of CFS patients have been under-researched. The aim of this study was to produce an easy-to-administer questionnaire to assess the responses of family members to people with CFS. METHODS: Seventy-eight people, all close relatives of (physician-diagnosed) CFS sufferers, completed the first version of the Family Response Questionnaire (FRQ). RESULTS: Examination of the correlation matrix and a cluster analysis of the items support four scales rather than the original five. The four response scales were labelled: sympathetic-empathic, active engagement, rejecting-hostile, and concern with self. Measures of test-retest and internal reliability were high. Participants found the items both comprehensible and relevant to their experiences of living with people with CFS. CONCLUSION: The new version of the FRQ will be useful in further examination of the responses of CFS on individuals and their families.

Adolescent↗
PubMed1997

Relation of parental affective illness to family, dyadic, and individual functioning: an observational study of family interaction.

Family, dyadic, and individual functioning were examined in 18 control families and 41 families with a history of maternal affective illness-including 26 in which husbands also had a history of psychiatric illness. Assessments of functioning, based on observed family interactions, indicated that families with a history of affective illness are more likely to have functional problems, and that problems may differ as a function of type of diagnosis and number of ill parents. Findings suggest that clinical program planning should take into account variability within groups, as well as individual competencies.

Adult↗