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Biomedical subjects

L Brody

Publications and source records attributed to L Brody.

18 recordsLinked to original sources
PubMed2006

Prospective, blinded comparison of helical CT and CT arterial portography in the assessment of hepatic metastasis from colorectal carcinoma.

OBJECTIVE: This prospective blinded comparison of helical CT and helical CT arterial portography aimed to detect liver metastasis from colorectal carcinoma. METHODS AND MATERIALS: 50 patients with colorectal carcinoma were evaluated comparing helical CT with helical CT arterial portography. Each imaging study was evaluated on a 5-point ROC scale by radiologists blinded to the other imaging findings, and the results were compared, with the surgical and pathologic findings as the gold standard. RESULTS: Of the 127 lesions found at pathology identified as metastatic colorectal cancer, helical CT correctly identified 85 (69%) and CT portography 96 (76%). When subgroups with lesions <3 cm (48 patients) and patients with maximum tumor size <3 cm (18 patients) were considered, CT portography was always better than helical CT in terms of sensitivity, specificity, positive predictive value, and negative predictive value. ROC analysis adjusting for multiple lesions per patient revealed significantly greater area under the curve (AUC) for the subgroup of lesions <3 cm (CT-AUC of 77% and CT portography AUC of 81%; P = 0.002). CONCLUSIONS: For identification of large metastases, helical CT and CT portography have similar yield. However, for detection of small liver metastases, CT portography remains superior for lesion detectability.

Colorectal Neoplasms↗
PubMed2001

Association and aggregation analysis using kin-cohort designs with applications to genotype and family history data from the Washington Ashkenazi Study.

When a rare inherited mutation in a disease gene, such as BRCA1, is found through extensive study of high-risk families, it is critical to estimate not only age-specific penetrance of the disease associated with the mutation, but also the residual effect of family history once the mutation is taken into account. The kin-cohort design, a cross-sectional survey of a suitable population that collects DNA and family history data, provides an efficient alternative to cohort or case-control designs for estimating age-specific penetrance in a population not selected because of high familial risk. In this report, we develop a method for analyzing kin-cohort data that simultaneously estimate the age-specific cumulative risk of the disease among the carriers and non-carriers of the mutations and the gene-adjusted residual familial aggregation or correlation of the disease. We employ a semiparametric modeling approach, where the marginal cumulative risks corresponding to the carriers and non-carriers are treated non-parametrically and the residual familial aggregation is described parametrically by a class of bivariate failure time models known as copula models. A simple and robust two-stage method is developed for estimation. We apply the method to data from the Washington Ashkenazi Study [Struewing et al., 1997, N Engl J Med 336:1401-1408] to study the residual effect of family history on the risk of breast cancer among non-carriers and carriers of specific BRCA1/BRCA2 germline mutations. We find that positive history of a single first-degree relative significantly increases risk of the non-carriers (RR = 2.0, 95% CI = 1.6-2.6) but has little or no effect on the carriers.

BRCA2 Protein↗
PubMed2001

Ego development, self-perception, and self-complexity in adolescence: a study of female psychiatric inpatients.

A study of two groups of female psychiatric inpatients, differing in level of ego development, explored domains of self-perception that best predicted global self-worth and symptom clusters that best predicted second-order factors of self perception. Findings revealed quantitative and qualitative differences in self-complexities, and more positive self-perceptions among the higher ego-level group in scholastic competence, job competence, and behavioral conduct. Results are discussed from a developmental perspective.

Achievement↗
PubMed1998

The kin-cohort study for estimating penetrance.

A cross-sectional study may be more feasible than a cohort or case-control study for examining the effect of a genetic mutation on cancer penetrance outside of cancer families. The kin-cohort design uses volunteer probands selected from a population with a relatively high frequency of the mutations of interest. By considering the cancer risk in first-degree relatives of mutation-positive and -negative probands as a weighted average of the risk in carriers and noncarriers, with weights calculated assuming a known mode of inheritance, one can infer the penetrance of the mutations. The estimates of penetrance by age 70 years for three specific mutations in the BRCA1 and BRCA2 genes common among Ashkenazi Jews for the first occurrence of breast or ovary cancer is 63%. The kin-cohort design can be a useful tool for quickly estimating penetrance from volunteers in a setting in which the mutation prevalence is relatively high.

Adult↗
PubMed1998

Molecular analysis of the third component of canine complement (C3) and identification of the mutation responsible for hereditary canine C3 deficiency.

Genetically determined deficiency of the third component of complement (C3) in the dog is characterized by a predisposition to recurrent bacterial infections and to type 1 membranoproliferative glomerulonephritis. The current studies were undertaken to characterize the cDNA for wild-type canine C3 and identify the molecular basis for hereditary canine C3 deficiency. Amplification, cloning, and sequence analysis indicated that canine C3 is highly conserved in comparison with human, mouse, and guinea pig C3. Southern blot analysis failed to show any gross deletions or rearrangements of DNA from C3-deficient animals. Northern blot analysis indicated that the livers of these animals contain markedly reduced quantities of a normal length C3 mRNA. The full-length 5.1-kb canine C3 cDNA was amplified in overlapping PCR fragments. Sequence analysis of these fragments has shown a deletion of a cytosine at position 2136 (codon 712), leading to a frameshift that generates a stop codon 11 amino acids downstream. The deletion has been confirmed in genomic DNA, and its inheritance has been demonstrated by allele-specific oligonucleotide hybridization.

Amino Acid Sequence↗
PubMed1998

Sonographically guided placement of peripherally inserted central venous catheters: review of 355 procedures.

OBJECTIVE: This paper reviews our experience using sonographic guidance in the insertion of peripherally inserted central venous catheters (PICCs). SUBJECTS AND METHODS: Three hundred fifty-five PICCs were placed in 262 patients, 19-92 years old, over a 24-month period using sonographic guidance for the initial venous cannulation. RESULTS: The average number of punctures was 1.2, with an average procedure time of 21 min. Our overall success rate to achieve the initial venous access was 99%. I.v. contrast material was used in only 2% of the cases, after successful initial venous access with sonographic guidance alone, to allow demonstration of anatomic variations or lesions that interfered with the completion of the procedure. Two immediate minor complications occurred. A high margin of safety was provided by avoiding the use of iodinated contrast medium and by visualizing the artery and its anatomic relation to the vein before and during needle placement. CONCLUSION: Sonographic guidance yielded superior three-dimensional localization of the selected vein and its precise anatomic relationship to the artery. Our experience has led us to conclude that sonographically guided placement of PICCs is a fast, safe, efficient, and inexpensive technique and should be the preferred method for PICC placement, especially in patients with no clinically identifiable peripheral vein.

Adult↗
PubMed1997

Associations between expressed emotion and child behavioral inhibition and psychopathology: a pilot study.

OBJECTIVE: To examine the relationship between behavioral inhibition and child psychopathology and measures of family adversity indexed through "expressed emotion." METHOD: Maternal expressed emotion was assessed via Five-Minute-Speech-Sample in two samples of children evaluated for prevalence of DSM-III disorders and assessed via laboratory observations for behavioral inhibition. The at-risk sample (N = 30) consisted of 4- to 10-year-old children of mothers with and without panic disorder (psychiatric controls). The Kagan sample (N = 41) consisted of children selected at age 21 months as behaviorally inhibited or uninhibited and followed through age 11. RESULTS: In the at-risk sample, child behavioral inhibition was associated with high/borderline maternal criticism, independent of other measures of child psychopathology. In both samples combined, high/borderline maternal criticism was associated with child externalizing symptoms and with the number of child mood and behavior disorders. Emotional overinvolvement was significantly associated with child separation anxiety disorder in the at-risk sample. CONCLUSIONS: Results suggest that child behavioral inhibition may be associated with maternal criticism/dissatisfaction and confirm other reports of associations between criticism and child behavior and mood disorders and between emotional overinvolvement and child separation anxiety.

Adult↗
PubMed1997

Expressed emotion toward children with behavioral inhibition: associations with maternal anxiety disorder.

OBJECTIVE: To examine the role of maternal psychopathology in influencing "expressed emotion" (EE) directed toward children with behavioral inhibition (BI) or psychiatric disorders. METHOD: Maternal EE was assessed via Five-Minute-Speech-Sample in two samples of children previously evaluated for child and maternal lifetime prevalence of DSM-III disorders and assessed via laboratory observations for BI. The authors previously reported that maternal EE was associated with BI and with the number of child behavior and mood disorders in these samples. The at-risk sample (N = 30) consisted of mothers with panic disorder and psychiatric controls and their 4-through 10-year-old children. The Kagan sample (N = 41) consisted of children selected at age 21 months as BI or uninhibited and followed through age 11. RESULTS: Interaction effects were found: in mothers with anxiety disorders, but not those without, maternal criticism (a component of EE) was significantly associated with child BI, independently of the child's number of disorders. Similarly, in mothers with anxiety disorders only, maternal criticism was significantly associated with a high number of child disorders. CONCLUSIONS: The relationships between mothers who have anxiety disorders and their children who have BI or psychiatric disorders may be marked by criticism or dissatisfaction. If confirmed, these findings offer opportunities for appropriate interventions.

Anxiety Disorders↗
PubMed1996

The murine homolog of the human breast and ovarian cancer susceptibility gene Brca1 maps to mouse chromosome 11D.

The recently cloned human breast and ovarian cancer susceptibility gene, BRCA1, is located on human chromosome 17q21. We have isolated murine genomic clones containing Brca1 as a first step in generating a mouse model for the loss of BRCA1 function. A mouse genomic library was screened using probes corresponding to exon 11 of the human BRCA1 gene. Two overlapping mouse clones were identified that hybridized to human BRCA1 exons 9-12. Sequence analysis of 1.4 kb of the region of these clones corresponding to part of human exon 11 revealed 72% nucleic acid identity but only 50% amino acid identity with the human gene. The longest of the mouse Brca1 genomic clones maps to chromosome 11D, as determined by two-color fluorescence in situ hybridization. The synteny to human chromosome 17 was confirmed by cohybridization with the mouse probe for the NF1-gene. This comparative study confirms that the relative location of the BRCA1 gene has been conserved between mice and humans.

Amino Acid Sequence↗
PubMed1995

Self-perceptions of adolescents with and without mood disorder: content and structure.

This study compared the self-perceptions of three groups of adolescents: one group with conduct disorder, a second group comorbid with both mood and conduct disorder, and a third group of normal controls. Results indicated that the three groups differed on several domains of self-perception, with each group reporting perceived strengths and weaknesses. Second-order principal component analyses revealed differences across groups in the structure of their self-perceptions. Finally, regression analyses indicated that self-perceptions share variance with a mixture of internalizing and externalizing symptoms. Results are discussed from a clinical-developmental perspective.

Adolescent↗
PubMed1989

Clinical, psychophysiological, and neurological characteristics of volunteers with impaired smooth pursuit eye movements.

Two hundred eighty-five volunteers from a community college were screened on campus for accuracy of their smooth pursuit eye movements (SPEM) by electrooculograph (EOG). Those volunteers with the least and the most accurate SPEM were recalled to the laboratory for a comprehensive evaluation of clinical and demographic characteristics, family history, neurological status, and psychophysiological and biological measures, including SPEM [repeat EOG test and infrared (IR) test], an electroencephalogram, auditory and visual evoked potentials, reaction time (RT), the continuous performance task (CPT), platelet monoamine oxidase (MAO), plasma amine oxidase, and dopamine-beta-hydroxylase (DBH). Low-accuracy SPEM was associated with social isolation, inadequate rapport, eccentricity, and a variety of related schizotypal or schizophrenia-like characteristics, but not with generalized psychopathology or other demographic/medical/clinical history variables. Low-accuracy SPEM also was associated with neurological and psychophysiological abnormalities frequently observed in schizophrenic patients. These results suggest that impaired SPEM may reflect an underlying central nervous system dysfunction that is specifically associated with clinical and biological characteristics related to schizophrenia, even in the absence of overt schizophrenia.

Adult↗
PubMed1981

Systemic manifestations of gyrate atrophy of the choroid and retina.

In ten patients with gyrate atrophy (GA) and hyperornithinemia, the head hair was fine, straight, and sparse. On microscopic examination, both scalp and pubic hair contained intermittent dark cores within the medullary zone, which was not a deposit, but appeared to be due to the unusual refractive properties of loosely formed macrofilaments amidst wide spaces containing a structureless electron lucent but compact substance, which was insoluble in both water and solvents. Seven of the ten patients had abnormal wave forms on electroencephalography. Three of the five patients who underwent muscle biopsy had tubular aggregates. Of particular interest was the toxicity of exogenous ornithine added to muscle cell culture from GA patients as compared with the lack of toxicity in muscle from control patients. What specific role the hyperornithinemia and absence of OAT is playing in the histopathology of hair and muscle and the EEG changes awaits further biochemical investigation.

Adolescent↗