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PubMed2000

Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment.

Two familial X-linked dominant syndromes of cortical maldevelopment have recently been described: double cortex/lissencephaly syndrome and bilateral periventricular nodular heterotopia. We report on 12 kindreds with familial perisylvian polymicrogyria (FPP) presenting at 10 centers, examine the clinical presentation in these familial cases, and propose a possible mode of inheritance. The clinical and radiological pattern was variable among the 42 patients, with clinical differences among the families and even within members of the same family. Pseudobulbar signs, cognitive deficits, epilepsy, and perisylvian abnormalities on imaging studies were not found in all patients. When present, they displayed a spectrum of severity. The only clear correlation in this study was between bilateral imaging findings and abnormal tongue movements and/or pronounced dysarthria. Most of the families provided evidence suggestive of, or compatible with, X-linked transmission. On the other hand, the pedigrees of 2 families ruled out X-linked inheritance. The most likely mode of inheritance for these 2 families was autosomal dominant with decreased penetrance; however, autosomal recessive inheritance with pseudodominance could not be ruled out in 1 family. We conclude that FPP appears to be genetically heterogeneous. However, most of the families probably represent a third previously undescribed X-linked syndrome of cortical maldevelopment.

Adolescent↗
PubMed2000

Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden).

Familial atypical multiple mole melanoma (FAMMM) is an autosomal dominant disease characterized by the familial occurrence of malignant melanoma of the skin and multiple atypical precursor lesions. Germline mutations in the p16 (CDKN2A) gene have been reported in at least a quarter of such families. An association has been reported between p16 mutations and pancreatic cancer. The aim of this study was to assess the risk of developing pancreatic and other cancers in Dutch FAMMM families with a 19 bp deletion in exon 2 of the p16 gene (p16-Leiden). Mutation analysis was performed in 27 families suspected of FAMMM. Clinical and pathological data were collected from all relatives affected with cancer. A p16-Leiden mutation was identified in 19 families. These families included 86 patients with melanoma. The second most frequent cancer was pancreatic cancer, which was observed in 15 patients from 7 families. The mean age at diagnosis of pancreatic cancer was 58 years (range 38-77 years). The estimated cumulative risk of developing pancreatic cancer in putative mutation carriers by age 75 years was 17%. In 8 p16-Leiden-negative families, no cases of pancreatic cancer occurred. p16 mutation carriers have a considerable risk of developing pancreatic cancer. Further studies should evaluate the value of surveillance of the pancreas in these high-risk families.

Adult↗
PubMed2001

hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer.

The pattern of hMLHI and hMSH2 mutations was assessed to identify the genetic correlation between hereditary gastric and colorectal cancers. Four disease groups and their healthy family members were assembled according to the presentation of gastric cancer: FG, familial clustering of gastric cancer (n = 32); CG, family with one or more colorectal and gastric cancers in first-degree relatives (n = 22); HS, seven HNPCC families corresponding to the Amsterdam criteria (AMS+) and 12 suspected HNPCC families which did not satisfy one of the criteria (AMS-), but no gastric cancer among first- and second-degree relatives (n = 19); and SG, sporadic gastric cancer (n = 33). In the CG group, three were included in AMS + and six in AMS- criteria. Peripheral blood was obtained from them to detect hMLHI and hMLH2 mutations using PCR-SSCP analysis and direct sequencing. The incidence of mutations was 9.4% in the FG group, 54.5% in the CG group, 31.6% in the HS group, and none in the SG group. The incidence, type, and number of the mutation were not different between the CG and HS groups. Thirty-four different mutations included 19 in hMLH1 and 15 in hMSH2. Gastric cancer was the most common extracolonic malignancy in HNPCC and suspected HNPCC families (9/28, 32.1%). The hMLH1 or hMSH2 mutation occurred in seven of 10 families with AMS+, whereas it occurred in four of 18 with AMS- (70% vs. 22.2%, P = .013). Five mutations in the hMLH1 and six mutations in the hMSH2 were exclusively found in families with gastric cancer. All three mutations in the FG group were in hMLHI and there was no mutation in their healthy family members. This study demonstrates that some familial clustering type of gastric cancer appears to be associated with hMLHI mutations thereby indicating a difference from the hereditary gastric cancer studies previously reported. In addition, hMLHI and hMSH2 mutations may impact the gastric cancer carcinogenesis in HNPCC or suspected HNPCC.

Adaptor Proteins, Signal Transducing↗
PubMed2003

Benign familial and non-familial infantile seizures: a study of 64 patients.

INTRODUCTION: The recently proposed diagnostic scheme for people with epileptic seizures and with epilepsy (Epilepsia 2001) includes two idiopathic focal epileptic syndromes with onset during the first year of life, the benign familial and non-familial infantile seizures. OBJECTIVES: To analyze the electroclinical features and evolution in patients with benign familial and non-familial infantile seizures. PATIENTS AND METHODS: Sixty-four patients (36 males and 28 females) were evaluated at the Neurology Department of the J. P. Garrahan Children's Hospital between February 1990 and December 2001. We analyzed gender, age at onset, duration, manifestations, circadian distribution and frequency of seizures, family history of epilepsy and paroxysmal dyskinesias. EEG and neuroradiological studies were performed. The semeiology of the seizures was analyzed only according to the description in the clinical history. Ictal EEGs could not be recorded. RESULTS: Twenty-five patients, 14 girls and 11 boys, had a family history of similar seizures with an age at seizure onset of 3 to 22 months (median of 5.5 months). Nine patients (36%) had apparently generalized convulsions only; five patients (20%) partial seizures only and ten patients (50%) had both partial and generalized seizures. Convulsions were brief, during wakefulness in all, and occurred in clusters in 12 patients (48%). Interictal EEG was normal in 24 patients (96%). Similar seizures and age at onset were found in 14 fathers, ten mothers and one uncle of these patients. Twenty-two patients (88%) had their last seizure before the age of 30 months. Two siblings of the same family later had brief episodes of paroxysmal kinesigenic dyskinesia, which in one of them were associated with infantile seizures. Later, two fathers developed paroxysmal kinesigenic dystonia. One of them also had had infantile seizures. A second group of 39 patients (25 boys and 14 girls) showed similar electroclinical features and evolution but there was no history of infantile seizures in first-degree relatives family history of epilepsy was found in 12.8% of second-degree relatives, but the type of epilepsy could not be defined. CONCLUSION: This study confirms the existence of a familial benign epileptic syndrome in infancy, of probable dominant autosomical transmission. A large group also had similar electroclinical features but without a family history. We discuss the possible relationships between the two groups and suggest that further genetic studies may solve the problem.

Age of Onset↗
PubMed2004

Comparison of some risk factors between non-familial and familial breast cancer females in Jordan.

OBJECTIVE: To compare the risk factors such as age, menopause, menarche, age at the first pregnancy, number of pregnancies and breast feeding period between the familial and non-familial breast cancer females in Jordan. METHODS: This study was carried out in Al-Basheer Hospital, Amman, Jordan during the period 2000 and 2002. A questionnaire was used to collect information from 99 females who were histologically and pathologically diagnosed with breast cancer. Data of the questionnaire were entered and analyzed using statistical package for social sciences. RESULTS: The highest percentage of non-familial and familial breast cancer occurrence was among age group 51-60 years. The age of the first pregnancy is another risk factor of which the highest percentage of breast cancer was reported for both familial (57.1%) and non-familial (65.4) breast cancer females who have their first pregnancy while they were 20-years-old and above. More than 4 pregnancies also represents a risk factor for both non-familial (67.9%) and familial (68.6%) breast cancer patients. In this study, there are no statistical differences between menopause and menarche age among the breast cancer females. Finally, an inverse relationship was shown between breast feeding period (equal or more than 24 months) and the occurrence of breast cancer in both non-familial (2%) and familial (0%) breast cancer. CONCLUSION: This study found that age 51-60 years and the increase number of pregnancies (more than 4) in the age of 20 years or more are risk factors for both types of breast cancer. On the other hand, longer period of breast feeding (more than 24 months) decreases the risk of breast cancer in both types.

Adult↗
PubMedDate not supplied

[Comparison of lipid and lipoprotein(a) metabolism in blood serum and the thickness of common carotid artery (intima-media thickness complex-- IMT), in children from families at risk for cardiovascular disease and in families without risk].

THE AIM: The aim of the study was to compare selected parameters of lipid and lipoprotein metabolism in blood serum and the thickness of common carotid artery wall (intima-media thickness complex -- IMT) in children from families at risk for circulatory system disease in their history and in families without this risk. MATERIAL AND METHODS: The study included 18 children aged 2-3 years from families with circulatory system disease in their history. The control group was composed of 16 children aged 2-3 years from families without that risk. In all of the subjects concentrations of triglycerides, total cholesterol and its fractions: LDL, VLDL, HDL and of lipoprotein(a) in blood serum were determined. The intima-media thickness (IMT) measurement in children was made with ultrasonographic method. RESULTS: The concentration of triglycerides, VLDL cholesterol and lipoprotein(a) had the highest value in the blood serum of the children from the families with circulatory system disease in their history as compared to the levels of the children from families without that risk and the differences were statistically significant (p<0.05). The mean values of IMT in children from families with positive history were higher than in children in the control group, but these differences were not statistically significant. CONCLUSIONS: The appearance of lipid metabolism disorders and higher lipoprotein concentration in children from families with circulatory system disease in their history allows us to conclude that the children from those families constitute a high risk group. Lipid profile should be periodically controlled in those children. Moreover, in justifiable cases atherosclerosis changes indexes should be controlled as well. However; IMT examination of the carotid artery, as a non-invasion method, can be a very useful method in tracing the early development of atherosclerosis changes in children's vessels, especially in children from families with circulatory system disease in their history.

Cardiovascular Diseases↗
PubMed1991

[Familial hepatocellular carcinoma in B or non-A non-B cirrhosis. Report of 4 families].

We report the cases of four families in whom 2 or 3 cases of hepatocellular carcinoma were observed. In the first family, the mother and 2 daughters had hepatocellular carcinoma. In 2 other families, 2 brothers had hepatocellular carcinoma. In the first three families, all patients with hepatocellular carcinoma, as well as other members of these three families, were chronic HBsAg carriers. In the fourth family, hepatocellular carcinoma developed in 2 brothers with HBsAg negative Mediterranean cirrhosis. Because of the high risk of hepatocellular carcinoma in chronic HBsAg carriers, it is conceivable that the occurrence of familial cases of hepatocellular carcinoma could be fortuitous. However, we cannot exclude the possibility of the familial predisposition to hepatocellular carcinoma. Therefore, it seems wise, when hepatocellular carcinoma develops in one patient in a family, to carefully monitor other members of this family, whether HBsAg positive or with non A non B chronic hepatitis, for the development of hepatocellular carcinoma.

Adult↗
PubMed1978

[Familial myeloproliferative syndromes. Study of 6 families and review of literature].

Ten clinical observations concerning six families with familial myeloproliferative disorders are reported. Family no. 1 : two brothers, RES with myelosclerosis and ROS with chronic myeloid leukemia. Family no. 2 : PG atypical myeloproliferative syndrome and his brother polycythemia vera. Family no. 3 : DF myelosclerosis and her son (DR) polycythemia vera. Family no. 4 : DM, polycythemia vera, the mother and a sister with splenomegaly. The brother died with myelofibrosis. Family no. 5 : GA and ML, cousins with polycythemia vera. Family no. 6 : MB and ZG, a brother and sister with polycythemia vera. No consanguinity and no toxic, infections or malignant etiology were found in these families. The literature reviewed emphasises the rarity of the familial incidence of myeloproliferative disorders.

Adult↗
PubMed1997

Family strengths, motivation, and resources as predictors of health promotion behavior in single-parent and two-parent families.

The extent to which selected aspects of family health potential (strengths, motivation, and resources) predicted health work (health-related problem-solving and goal attainment behaviors) was examined in a Canadian sample of 138 female-headed single-parent families and two-parent families. The mother and one child (age 10-14) each completed mailed self-report instruments to assess the independent variables of family cohesion, family pride, mother's non-traditional sex role orientation, general self-efficacy, internal health locus of control, network support, community support, and family income, as well as the dependent variable, health work. With the effects of mothers' education held constant, the independent variables predicted 22 to 27% of the variance in health work in the total sample and each family type. Family cohesion was the most consistent predictor of health work, accounting for 8 to 13% of the variance. The findings challenge existing problem-oriented views of single-parent families by focusing on their potential to engage in health promotion behavior.

Adolescent↗
PubMed1995

Aggressive family communication, weight gain, and improved eating attitudes during systemic family therapy for anorexia nervosa.

During systemic family therapy with 15 hospitalized anorexics, family communication was evaluated, using a Family Aggression Scale developed by one of the authors. Initially members communicated aggression covertly. This finding may partially explain the common clinical observation that the families of anorexics present a strong facade of togetherness and avoid overt conflict. During therapy members shifted from covert communication of aggression to covert communication of aggression. This shift correlated with improvement in subjects' eating attitudes reflected by their EAT-26 scores. All subjects gained weight. Greater weight gain occurred in subjects whose families had low levels of covert or indirect aggression. A regression analysis showed that 86% of the variance in weight gain was predicted by two leading indicators in the middle phase of treatment. Two other factors accounted for 64% of the variance in EAT scores. The findings of this study suggest that family aggression as measured by the Family Aggression Scale is a significant index of pathology in anorexics' families and is also a clinically meaningful measure of improved conflict resolution during systemic family therapy.

Adolescent↗
PubMed1995

The provision of family planning services by family doctors in a health board region.

A survey was carried out to ascertain the extent of family planning services provided by family doctors. Of the 134 doctors surveyed, 119 (88.8%) replied. Of these 97 (81.5%) were male, 30 (25.2%) were aged less than 40 and 22 (18.5%) were greater than 60. Sixty-four (53.8%) worked in single-handed practices, 52(43.7%) were vocationally trained, 101 (84.9%) had the MICGP or equivalent and 42 (35.3%) had a family planning certificate. Of the 119 respondents, 99 (83.2%) give instruction in natural family planning methods, 114 (95.8%) prescribe oral contraceptives, 102 (85.7%) prescribe the "morning after pill", 40 (33.6%) fit diaphragms and 17 (14.3%) fit intrauterine devices. Only 3 (2.5%) perform male sterilisations. Doctors aged less than 60 years were 1.3 times more likely to prescribe oral contraceptives (p < 0.0001), and were four times more likely to fit diaphragms (p < 0.01). Doctors who hold a family planning certificate were 2.4 times more likely to fit diaphragms (p < 0.001) and were 2.5 times more likely to fit intrauterine devices. As to who should provide these services, the family doctor was the preferred option for 95 (79.8%) with regard to natural family planning, 107 (89.9%) for the contraceptive pill, 76 (63.9%) for the diaphragm, 58 (48.7%) for the intrauterine device, 45 (37.8%) for male sterilisations and 4 (3.4%) for female sterilisations. Younger doctors and those with a family planning certificate were more likely to say that family doctors should provide these services.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1998

The Family System Test (FAST). A pilot study in families with a young adult member with cancer.

The impact of a cancer diagnosis upon a family has become a focus of clinical interest, but few scientific studies have been completed in this area. The objectives of this pilot study were twofold: first, to test the applicability of the Family System Test (FAST) in families (n = 5) with a young adult member with cancer and secondly to evaluate patterns of interactions within these families. Results show that the FAST is applicable and useful to evaluate the different perceptions of hierarchy and cohesion--two essential variables--within these families. The great majority of family members represented their relationships as balanced (i.e., cohesive and moderately hierarchical). However, contrary to nonclinical families, fathers had a less positive view than mothers and patients: fathers more often perceived family and parenteral relations as unbalanced, and also more often perceived a reversal of hierarchy and a cross-generational coalition within the family. Implications for future research and clinical care are discussed.

Adaptation, Psychological↗
PubMedDate not supplied

Families at risk of child maltreatment: entry-level characteristics and growth in family functioning during treatment.

Research suggests that perinatal screening and early intervention may reduce the incidence of maltreatment and improve the parenting in at-risk families. The question of whether families with different sets of entry-level characteristics differ in the way that they respond to intervention is asked in this paper. We investigated whether entry-level family functioning and family problems had an impact on length of time in treatment and the improvement or deterioration of family functioning over time. In our analyses, we used entry-level characteristics to classify families into five homogeneous groups--situationally stressed, chronically stressed, emotionally stressed, multirisk, and violent multirisk--and we found that treatment duration and rate of change in family functioning over time differed in clinically important ways across these groups. Our findings suggest that treatment is likely to be successful in stabilizing and slowly improving the family functioning of the majority of families at risk of child maltreatment.

Adolescent↗
PubMed2004

Community-Based multiple family groups to prevent and reduce violent and aggressive behavior: the GREAT Families Program.

This paper describes the targeted intervention component of GREAT Schools and Families. The intervention-GREAT Families-is composed of 15 weekly multiple family group meetings (e.g., 4-6 families per group) and addresses parenting practices (discipline, monitoring), family relationship characteristics (communication, support, cohesion), parental involvement and investment in their child's schooling, parent and school relationship building, and planning for the future. High-risk youth and their families-students identified by teachers as aggressive and socially influential among their peers-were targeted for inclusion in the intervention. The paper describes the theoretical model and development of the intervention. Approaches to recruitment, engagement, staff training, and sociocultural sensitivity in work with families in predominantly poor and challenging settings are described. The data being collected throughout the program will aid in examining the theoretical and program processes that can potentially mediate and moderate effects on families. This work can inform us about necessary approaches and procedures to engage and support families in efforts to reduce individual and school grade-level violence and aggression.

Adolescent↗
PubMed2006

Familial amyloid polyneuropathy (Finnish type) in a Japanese family: Clinical features and immunocytochemical studies.

Familial amyloid polyneuropathy (FAP: type IV), known as familial amyloidosis of the Finnish type (FAF), is very rare and reported only in a few countries. The gelsolin mutation G654A is most frequent causative gene in FAF family. The clinical phenotype of FAF possesses several neurological characteristics with multiple cranial nerve signs, in addition to a peculiar exanthema of "lichen amyloidosus" and pendulous skin "cutis laxa", and the carpal tunnel syndrome. We report a new Japanese FAF family presenting bilateral atrophies and fasciculations of the facial muscles and tongue. The patients in our family presented with skin changes as "lichen amyloidosus" and "cutis laxa". In this FAF family, lichen amyloidosus appeared under sunlight and high temperatures in the summer season every year. Two patients in our family presented with common clinical features of FAF, except for the above laboratory results. Including previous cases and our family, this clinical phenotype is similar to the gelsolin gene mutation (G654A) in FAF family members.

Amyloid Neuropathies, Familial↗
PubMed1993

Anxiety of elective surgical patients' family members. Relationship between anxiety levels, family characteristics.

Technological advances in the OR create new practices and procedures; however, humanistic and holistic approaches to nursing care remain the foundation of clinical practice. Perioperative nurses recognize that family members experience anxiety during surgery, especially during the time the patient is in the OR. Ironically, it is during this time period that little or no meaningful communication occurs between family members and health professionals. Patients continue to be discharged sooner, and in sicker condition, to be cared for by their family members. Families require information about how to provide postoperative care. Anxiety levels need to be decreased sufficiently to allow family members to use the information they are taught and ask appropriate questions. Interventions that reduce family members' anxiety need to be developed and tested so that family members can help patients after surgery. Using research findings as a basis for perioperative nursing practice may mean changing traditions and attitudes about family members of surgical patients. In the consumer-oriented climate of current health care, doing the "new" may make a difference in the market share. This "new" may be independent nursing interventions designed to reduce family members' anxiety during the intraoperative waiting period.

Adolescent↗
PubMed1998

Family nursing in intensive care. Part two: The needs of a family with a member in intensive care.

It was demonstrated in Part one that the family is a justifiable concern to nurses in intensive care and that family-focused care is appropriate in such an area. If this approach to care is to be considered, it is necessary to identify the needs of families when they have a member in an intensive care unit. This is a well-researched area and some of the relevant literature is discussed within this paper. Before this literature is addressed, an attempt is made to define the concept of need. The methodologies used in the identification of family needs could be adapted to explore whether or not the needs of the families of patients in a particular intensive care unit are being met. This paper suggests that if it was shown that the meeting of family needs was an area of care which could be improved upon, then a family-centred approach to care would be a reasonable option. If however, it is shown that families already perceived their needs as being met, then changing the system of care to a more formal family nursing approach would seem to be unnecessary.

Critical Care↗
PubMed2000

Learning achievement, social adjustment, and family conflict among Bedouin-Arab children from polygamous and monogamous families.

A sample of 146 Bedouin-Arab pupils from polygamous and monogamous families participated in this study, which was conducted in a Bedouin-Arab village in the Negev, Israel. The authors compared learning achievement, social adjustment, and family conflict. Data revealed differences between the two groups: The children from monogamous families had higher levels of learning achievement than did the children from polygamous families; in addition, those from monogamous families adjusted to the school framework better than did those from polygamous families. The mean conflict rating of children from polygamous families was higher than that of their counterparts from monogamous families. The father's level of education tended to be inversely correlated with family size in terms of both number of children and number of wives.

Adult↗