Commentary: recurrent abdominal pain.
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Abdominal Pain↗
Biomedical subjects
J Garber
Publications and source records attributed to J Garber.
Genetic analysis of eight breast-ovarian cancer families with suspected BRCA1 mutations.
BRCA1 is a breast cancer-related tumor suppressor gene located on human chromosome 17q21. Inherited mutations in BRCA1 are thought to be responsible for approximately half of all inherited breast cancer and to confer increased risk for ovarian, colon, or prostate cancer. Studies of affected families and population-based studies have provided some information on the prevalence of BRCA1 mutations in Caucasian U.S. and European populations as well as on the penetrance of these mutations. We review the available data on the epidemiology of breast cancer with specific reference to BRCA1. In addition, we describe the genetic analysis of one large family with multiple affected individuals now known to harbor a BRCA1 germline mutation but initially identified by genetic linkage analysis. This family is presented as a model of the challenges that can be encountered in genetic analysis of familial forms of cancer. To this end, we compare the outcome of analysis before and after the identification of a mutation that predisposes family members to early-onset breast and ovarian cancers. We describe seven additional families with evidence of linkage between breast cancer and genetic markers in the BRCA1 region. Each of these families generated a 2-point LOD (i.e., logarithm of the odds) score greater than 1.18 for at least one polymorphic marker flanking BRCA1. These families have formed the basis of our efforts to characterize BRCA1 mutations. First-pass mutation analysis using the single-strand conformation polymorphism approach failed to identify any mutations in the seven families. We consider the possible reasons for the apparent low mutation-detection efficiency.
Adult↗
The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer.
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Base Sequence↗
Somatic complaints in pediatric patients: a prospective study of the role of negative life events, child social and academic competence, and parental somatic symptoms.
This prospective study of 197 pediatric patients with chronic abdominal pain examined the role of negative family life events and several potential moderator variables (child social and academic competence, parental somatic symptoms, and child sex) in child somatic complaints 1 year after a clinic visit. Results indicated that (a) among children low in social competence at the time of the initial clinic visit, higher levels of subsequent negative life events predicted higher levels of somatic complaints at follow-up; (b) among boys in families with high levels of negative life events, those whose mothers were characterized by high levels of somatic symptoms had higher levels of somatic complaints at follow-up; and (c) children whose fathers were characterized by high levels of somatic symptoms showed higher levels of somatic complaints at follow-up, regardless of the level of life events. Possible mechanisms accounting for these findings are discussed.
Abdominal Pain↗
The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer.
We have identified a human homolog of the bacterial MutS and S. cerevisiae MSH proteins, called hMSH2. Expression of hMSH2 in E. coli causes a dominant mutator phenotype, suggesting that hMSH2, like other divergent MutS homologs, interferes with the normal bacterial mismatch repair pathway. hMSH2 maps to human chromosome 2p22-21 near a locus implicated in hereditary nonpolyposis colon cancer (HNPCC). A T to C transition mutation has been detected in the -6 position of a splice acceptor site in sporadic colon tumors and in affected individuals of two small HNPCC kindreds. These data and reports indicating that S. cerevisiae msh2 mutations cause an instability of dinucleotide repeats like those associated with HNPCC suggest that hMSH2 is the HNPCC gene.
Amino Acid Sequence↗
Cognitions, depressive symptoms, and development in adolescents.
This study examined the generalizability of cognitive models of depression to adolescents and explored developmental differences with regard to depressotypic cognitions. Self-reported depressive symptoms and various hypothesized cognitive correlates (e.g., automatic thoughts, attributions, dysfunctional attitudes) were investigated in a sample of 688 adolescents in grades 7 through 12. Measures of normative adolescent cognitions (e.g., egocentrism, self-consciousness) also were included. There was a strong association between negative thinking and depression in adolescents. There was no association between depressogenic thinking and age, nor did the strength of the association between negative cognitions and depression vary from early to middle adolescence. Finally, negative cognitions were associated with self-report measures of both depressive and anxious symptoms.
Adolescent↗
Psychosocial correlates of recurrent childhood pain: a comparison of pediatric patients with recurrent abdominal pain, organic illness, and psychiatric disorders.
Pediatric patients with recurrent abdominal pain (RAP) were compared with patients with peptic disease, patients with emotional disorders, and well children with regard to (a) emotional and somatic symptoms and (b) theoretically derived variables, including negative life events, competence, family functioning, and the modeling and encouragement of illness behavior. RAP patients had levels of emotional distress and somatic complaints higher than those of well children and lower than those of psychiatric patients, but not different from those of patients with peptic disease. RAP patients had fewer negative life events, better family functioning, and higher competence than children with emotional disorders. In comparison with well children and psychiatric patients, both RAP and peptic disease patients had a higher incidence of illness in other family members and perceived greater parental encouragement of illness behavior for abdominal symptoms.
Abdominal Pain↗
Screening for germ line TP53 mutations in breast cancer patients.
The constant denaturant gel electrophoresis technique was used to screen for TP53 germ line mutations in 237 women with breast carcinoma (167 unselected patients, 30 patients with at least one first-degree relative with breast cancer, and 40 women diagnosed with breast cancer before age 35). A germ line mutation at codon 181 was noted in one of the unselected patients and a codon 245 mutation in one of the early-onset patients. Both had a family history of breast cancer and other malignancies suggestive of Li-Fraumeni syndrome. The codon 245 mutation was also present in this patient's affected mother.
Adult↗
Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms.
BACKGROUND: Acquired mutations in the p53 tumor-suppressor gene have been detected in several human cancers, including colon, breast, and lung cancer. Inherited mutations (transmitted through the germline) of this gene can underlie the Li-Fraumeni syndrome, a rare familial association of breast cancer in young women, childhood sarcomas, and other malignant neoplasms. We investigated the possibility that p53 mutations in the germline are associated with second primary cancers that arise in children and young adults who would not be considered as belonging to Li-Fraumeni families. METHODS: Genomic DNA was extracted from the blood leukocytes of 59 children and young adults with a second primary cancer. The polymerase chain reaction, in combination with denaturant-gel electrophoresis and sequencing, was used to identify p53 gene mutations. RESULTS: Mutations of p53 that changed the predicted amino acid sequence were identified in leukocyte DNA from 4 of the 59 patients (6.8 percent). In three cases, the mutations were identical to ones previously found in the p53 gene. The fourth mutation was the first germline mutation to be identified in exon 9, at codon 325. Analysis of leukocyte DNA from close relatives of three of the patients indicated that the mutations were inherited, but cancer had developed in only one parent at the start of the study. CONCLUSIONS: These findings identify an important subgroup of young patients with cancer who carry germline mutations in the p53 tumor-suppressor gene but whose family histories are not indicative of the Li-Fraumeni syndrome. The early detection of such mutations would be useful not only in treating these patients, but also in identifying family members who may be at high risk for the development of tumors.
Adolescent↗
Social information processing in aggressive and depressed children.
Social information processing patterns of children who were identified as being aggressive or depressed, both, or neither were compared in order to address the issue of specificity and to explore whether children who are comorbid show a unique processing style. Subjects were 220 children in the third through sixth grade. Peer nomination and teacher ratings were used to assess level of aggression, and the Children's Depression Inventory was used to measure level of depression. Aggressive children showed a hostile attributional bias, were more likely to report that they would engage in aggressive behavior, and indicated that aggression would be easy for them. Depressed children similarly showed a hostile attributional bias, although they were more likely to attribute negative situations to internal, stable, and global causes. Depressed children also reported that they would be less likely to use assertive responses and that they expected that assertive behavior would lead to more negative and fewer positive outcomes. Children who were comorbid generally showed patterns similar to both aggressive and depressed children.
Affect↗
Chromosome 11 uniparental isodisomy predisposing to embryonal neoplasms.
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Alleles↗
Somatization symptoms in pediatric abdominal pain patients: relation to chronicity of abdominal pain and parent somatization.
Symptoms of somatization were investigated in pediatric patients with recurrent abdominal pain (RAP) and comparison groups of patients with organic etiology for abdominal pain and well patients. Somatization scores were higher in RAP patients than well patients at the clinic visit, and higher than in either well patients or organic patients at a 3-month followup. Higher somatization scores in mothers and fathers were associated with higher somatization scores in RAP patients, but not in organic or well patients. Contrary to the findings of Ernst, Routh, and Harper (1984), chronicity of abdominal pain in RAP patients was not significantly associated with their level of somatization symptoms. Psychometric information about the Children's Somatization Inventory is presented.
Abdominal Pain↗
What can specificity designs say about causality in psychopathology research?
Specificity designs in psychopathology research are used to examine whether a variable is unique to a given disorder. When nonspecificity is observed, it typically is assumed that the variable in question is not a cause of the disorder, but is instead a nonspecific consequence of general psychopathology. Such reasoning is flawed, however, because it fails to distinguish between testing a particular causal model containing the variable versus testing the causal status of the particular variable within the model. A variable may be nonspecific, but still causal, if it is one of several multiple interacting causes or if a nosological error has been made. A recognition of these complexities has implications for the nature of the psychopathology control group selected.
Depressive Disorder↗
Recurrent abdominal pain in children: psychiatric diagnoses and parental psychopathology.
Approximately 12% of children report recurrent episodes of abdominal pain. In only about 10% of these cases, however, can an organic etiology be identified, and therefore it often is assumed that these children have emotional problems. To test this hypothesis, children with recurrent abdominal pain (RAP) with no identifiable organic cause were compared to children with an organic diagnosis for their abdominal pain, children with psychiatric disorders, and healthy controls. Both groups of children with abdominal pain had significantly more psychiatric disorders (predominantly anxiety and depression) than did the healthy group. Both RAP and psychiatric children had significantly higher Child Behavior Checklist internalizing scores; psychiatric children were rated as significantly more maladjusted on the Children's Global Assessment Scale. Mothers of RAP children were significantly more anxious than mothers of organic pain and healthy children. Psychiatric children were significantly more likely than the other three groups to underreport their psychiatric symptoms relative to their mothers.
Abdominal Pain↗
Improving first appointment attendance rates in child psychiatry outpatient clinics.
This study tested the efficacy of several interventions for reducing the rate of "no shows" to first appointments to a child psychiatry outpatient clinic. After their initial telephone contact with the clinic, patients were randomly assigned to one of four conditions: (1) a reminder telephone call, (2) an orientation letter, (3) both a telephone prompt and an orientation letter, and (4) no contact. Results indicated that any contact was significantly more likely to reduce the "no show" rate than no contact. Those who "no showed" or cancelled had to wait significantly longer for an appointment than did those who showed. Parent's primary reason for not making their appointments was that the scheduled time interfered with their work schedule. Implications of these results for improving clinic services are discussed.
Adolescent↗
Recurrent depression in adolescents: a follow-up study.
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Adolescent↗
Nonrandom development of immunologic abnormalities after infection with human immunodeficiency virus: implications for immunologic classification of the disease.
Blood specimens from 165 intravenous drug users who were seropositive for the human immunodeficiency virus (HIV), from 158 seropositive homosexual men with lymphadenopathy, and from 77 patients with acquired immunodeficiency syndrome (AIDS) were assessed immunologically. Immunologic parameters were analyzed by the Guttman scalogram technique to determine if immunologic abnormalities occurred in a nonrandom pattern. The following four patterns emerged: (i) seropositivity for HIV with no immunologic abnormalities; (ii) seropositivity for HIV with a depressed T4/T8 cell ratio; (iii) seropositivity with a depressed T4/T8 cell ratio and T4-cell depletion; and (iv) seropositivity with a depressed T4/T8 cell ratio, T4-cell depletion, and lymphopenia. Ninety-two to 100% of subjects in each of the three groups of patients were found "to scale" because the abnormalities occurred in the cumulative, ordered fashion described. This nonrandom occurrence of abnormalities indicates an ordered progression of immunologic abnormalities in individuals infected with HIV, a finding useful in the staging of both symptomatic and asymptomatic HIV-seropositive subjects.
AIDS-Related Complex↗
AIDS and self-organization among intravenous drug users.
Gays and intravenous (i.v.) drug users are the two largest risk groups for AIDS. Gays, unlike drug users, have formed many organizations to deal with AIDS. Data are presented indicating that gay individuals have more risk-reducing behavioral changes than have i.v. drug users. It is also shown that i.v. drug users are more likely to protect themselves if their acquaintances do so. It is suggested that collective self-organization can lead to peer support for risk reduction and that this can help i.v. drug users to reduce their risks on an ongoing basis. Difficulties that face i.v. drug users' attempts to organize collectively and examples of i.v. drug user collective organization to deal with AIDS and other problems are discussed.
Acquired Immunodeficiency Syndrome↗