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PubMedDate not supplied

Depression in pediatric chronic illness. A diathesis-stress model.

Depression in pediatric chronic illness has been receiving increasing attention in recent years. Studies to date have typically focused on characteristics of illness as the major determinants of the development of depression, but characteristics of the child have received less attention. This review suggests that a diathesis-stress model can be a fruitful heuristic that would incorporate illness characteristics and attributes of the child and environmental effects in an overall framework to guide future research and treatment.

Adolescent↗
PubMed2002

Biochemical distinction between hyperuricosuric calcium urolithiasis and gouty diathesis.

OBJECTIVES: To determine whether the biochemical presentation and urinary physicochemical environment of patients with hyperuricosuria presenting with calcium stones (hyperuricosuric calcium urolithiasis [HUCU]) differs from those of patients with gouty diathesis (GD) or idiopathic uric acid urolithiasis. METHODS: A total of 122 patients with HUCU and 68 patients with GD were identified from our "stone registry" of patients who underwent a full ambulatory evaluation. All patients with HUCU had urinary uric acid greater than 800 mg/day in men and greater than 750 mg/day in women and presented with calcium stones. Those with GD had pure uric acid stones or mixed uric acid-calcium stones and did not have secondary causes of uric acid urolithiasis. Data derived from the fasting serum and 24-hour urine samples collected on a random diet and on a diet restricted in calcium, sodium, and oxalate were compared between the two groups. RESULTS: Compared with patients with HUCU, those with GD had significantly higher serum uric acid and lower urinary uric acid and pH levels (mean value 5.38 and 5.35 on random and restricted diets versus 6.09 and 6.14, respectively). The fractional excretion of urate and the discriminant score of the relationship between urinary pH and the fractional excretion of urate were significantly lower in those with GD than in those with HUCU. Patients with HUCU displayed a greater urinary saturation of sodium urate and calcium oxalate compared with those with GD, and those with GD had a higher urinary content of undissociated uric acid and lower urinary saturation of brushite (calcium phosphate). CONCLUSIONS: Patients with HUCU presented with normal urinary pH and hyperuricosuria, accompanied sometimes by hypercalciuria, which produced increased urinary saturation of sodium urate and calcium oxalate. In contrast, those with GD had a low fractional excretion of urate (that contributed to hyperuricemia) and low urinary pH (that led to increased amount of undissociated uric acid). The varying biochemical and physicochemical presentations of the two conditions can be ascribed to overindulgence with purine-rich foods in those with HUCU and underlying primary gout in those with GD.

Adult↗
PubMed1981

Cytophagic histiocytic panniculitis with fever, cytopenia, liver failure, and terminal hemorrhagic diathesis.

We have seen five adult patients with a clinical picture of recurrent histiocytic, cytophagic panniculitis, cytopenia, abnormal liver function tests, and a terminal, febrile bleeding diathesis. Originally thought to have Weber-Christian disease, these patients, we believe, represent a unique syndrome: lobular, histiocytic, cytophagic panniculitis. Erythrophagocytosis and cytophagocytosis are readily observed, but the cells do not show malignant features. Histiocytosis can be found at times in the bone marrow, lymph nodes, liver, spleen, and serosal tissues, as well as in the skin and subcutaneous tissues. The terminal hemorrhage in these patients is characterized by features of pancytopenia, liver failure, and intravascular coagulation. This disease may be separated from malignant histiocytosis by the chronic course, the primary involvement of the adipose tissue, and the benign histiocytes in the infiltrate. It has some similarities to other regional histiocytoses such as sinus histiocytosis, intestinal histiocytosis, and splenic histiocytosis.

Adult↗
PubMed1998

Chromosomal fragility may be indicative of altered higher-order DNA organization as the underlying genetic diathesis in complex neurobehavioral disorders.

Preliminary observations concerning increased chromosomal fragility in association with behavioural disorders in humans allow an opportunity to suggest a cohesive theory regarding the possible importance of higher-order DNA modifications in the coordination of gene function in brain evolution and during development. Visible or submicroscopic acentric chromosomal fragments are formed as an accompaniment to chromosomal breakage and are associated with sequence amplification. During genomic reintegration of extrachromosomally amplified repeat sequence elements, functional consequences could include unequal crossing over with gain-of-function, and/or deletion with loss-of-function. This process could result in regulatory changes in gene function in association with normal coding regions, since fragile sites appear to be located at or near upstream DNaseI-hypersensitive areas. Earlier research on chromosomal breakage in relation to transposon behaviour in maize has set a precedent by which many elements in a network could be coordinately controlled, a principle which may allow transcriptional control over multiple areas in the genome simultaneously. The hypothesis proposed in this paper implies that a small number of fundamental higher-order changes may be responsible for influencing a wide range of genetic alterations leading to complex phenotypes, sometimes segregating as distinct entities within pedigrees, or alternatively, and perhaps more commonly, presenting with several overlapping phenotypes in some other families. Studying only pure multiplex families in psychiatric genetics may not be sufficient for an understanding of the underlying genetic diathesis in this group of disorders. Validation of the fragile site hypothesis for complex neurobehavioural disorders may offer additional avenues for gene therapy based either on preferential integration of exogenous DNA at fragile sites, or utilizing the acentric fragments to modify sequence amplification extrachromosomally.

Chromosome Breakage↗
PubMed2001

The hopelessness theory of depression: a test of the diathesis-stress and causal mediation components in third and seventh grade children.

The goal of the current study was to test the diathesis-stress and causal mediation components of the hopelessness theory of depression in third- and seventh-grade children. The procedure involved an initial assessment of depressive symptoms, hopelessness, and the 3 cognitive styles posited as vulnerability factors by hopelessness theory. The procedure also involved a series of 6 weekly follow-up assessments in which depressive symptoms, hopelessness, and the occurrence of negative events were assessed. A depressogenic attributional style interacted with negative events to predict increases in depressive symptoms in seventh-grade children but not in third-grade children. A depressogenic inferential style about consequences interacted with negative events to predict increases in depressive symptoms in both third- and seventh-grade children. Last, a depressogenic inferential style about the self interacted with negative events to predict increases in depressive symptoms in third- and seventh-grade girls but not boys. None of these interactions were mediated by hopelessness.

Adaptation, Psychological↗
PubMed2001

Successful treatment of an acquired haemorrhagic diathesis due to factor X deficiency with chemotherapy.

A 70-yr-old woman presented with a severe haemorrhagic diathesis due to an acquired factor X deficiency. A plasma infusion study showed that exogenous factor X was eliminated very effectively from the patient's circulation. A bone marrow biopsy was consistent with plasma cell dyscrasia. Neither an abdominal fat biopsy nor the bone marrow biopsy confirmed an amyloidosis, although clinically no other diagnosis seemed possible. Treatment with intermittent chemotherapy, consisting of vincristine, cytoxan and prednisone, yielded definite clinical and laboratory improvement.

Aged↗
PubMed1997

Perfectionism, perceived weight status, and bulimic symptoms: two studies testing a diathesis-stress model.

Among a total of 890 women from 2 separate nonclinical samples (1 collected in 1982 on college undergraduates, n = 435, and 1 collected in 1992 on women who were in college in 1982, n = 455), the authors tested a diathesis-stress model of the interrelations of perfectionism, perceived weight status, and bulimic symptoms. The authors predicted and found that perfectionism served as a risk factor for bulimic symptoms for women who perceived themselves as overweight but did not serve as a risk factor for those who did not perceive themselves as overweight. Perceived weight activated perfectionism as a predictor of bulimic symptoms; actual weight did not serve the same role. These findings are discussed in the context of recent clinical and social psychological theory regarding development of bulimic symptoms.

Adult↗
PubMed1997

Comparison of cognitive models of depression: relationships between cognitive constructs and cognitive diathesis-stress match.

The authors examined the relationship between the cognitive components of the Beckian and Hopelessness models of depression by administering measures of dysfunctional attitudes, attributional style, and life stress to a sample of 59 depressed adults. Confirmatory factor analyses indicated that dysfunctional attitudes and attributional style load on separate factors as opposed to a single factor. Additional analyses revealed that depressed persons conforming to diathesis-stress criteria according to each model were largely independent of one another. Results supported the conclusion that the Beckian and Hopelessness models of depression describe distinct cognitive constructs and refer to distinct subsets of depressed persons.

Adult↗
PubMed2001

Evaluation of cognitive diathesis-stress models in predicting major depressive disorder in adolescents.

Diathesis-stress predictions regarding the onset of adolescent major depression and nonmood disorders were tested. Adolescents (N = 1,507) were assessed for dysfunctional attitudes and negative attributional style, as well as current depressive symptoms, current depressive and nondepressive diagnoses, and past and family histories of psychopathology. Approximately 1 year later, participants were reassessed on all measures. Analyses supported A. T. Beck's (1976) theory of depression (at the level of a trend) but not the hopelessness theory of depression. Findings were suggestive of a threshold view of vulnerability to depression; for those who experienced negative life events, depressive onset was related to dysfunctional attitudes but only when dysfunctional attitudes exceeded a certain level (low = intermediate < high). For participants who scored either very high or very low on both dysfunctional attitudes and negative attributional style, nonsignificant findings were obtained.

Adolescent↗
PubMed1998

Maladaptive achievement patterns: a test of a diathesis-stress analysis of helplessness.

The present study tested the assumptions, derived from a diathesis-stress model, that students' perceptions of autonomy-support in their classroom produce a relatively intrinsic as opposed to extrinsic motivational approach to academic tasks and that this approach, in turn, predicts qualitatively different responses to uncontrollable events. It was further assumed that students' motivational orientation would be more reliable than attributional style or perceptions of competence in predicting achievement patterns, including performance level after failure, use of adaptive attributions, and overall achievement scores. Results supported these predictions and further demonstrated, in longitudinal analyses, that motivational orientation may contribute to the formation of perceptions of competence and attributional style in students.

Achievement↗
PubMed2001

Mild bleeding diathesis in a boy with combined severe haemophilia B (C(10400)-->T) and heterozygous factor V Leiden.

Haemophilia B patients with factor IX (FIX) activity < 1% are usually characterized by severe bleeding episodes early in life. We report a case of sporadic severe haemophilia B, clinically characterized by mild bleeding diathesis. The presence of anamnestic thrombophlebitis in the patient's mother prompted us to investigate a possible associated hypercoagulable condition. Resistance to activated protein C due to factor V R506Q mutation was present in the mother and in the propositus, in the homozygous and heterozygous form, respectively. Molecular analysis of the FIX gene led to the identification of a nonsense mutation resulting in a stop codon at position 50, previously described and usually responsible for a severe pattern of haemophilia B. The implications of this unusual association are discussed.

Activated Protein C Resistance↗
PubMed1999

Chromosomal fragility may be indicative of altered higher-order DNA organization as the underlying genetic diathesis in complex neurobehavioural disorders.

Preliminary observations concerning increased chromosomal fragility in association with certain behavioural disorders in humans allow an opportunity to suggest a cohesive theory regarding the possible importance of higher-order DNA modification in the coordination of gene function in brain evolution and during development. Visible or submicroscopic acentric chromosomal fragments are formed as an accompaniment to chromosomal breakage and are associated with sequence amplification. During genomic reintegration of such extra chromosomally amplified repeat sequence elements, functional consequences could include unequal crossing over with gain-of-function, and/or deletion with loss-of-function. This process could result in regulatory changes in gene function in association with normal coding regions, since fragile sites appear to be located at or near upstream DNase-I hypersensitive areas. Earlier research on chromosomal breakage in relation to transposon behaviour in maize has set a precedent by which many elements in a network could be coordinately controlled, a principle which may allow transcriptional control over multiple areas in the genome simultaneously. The hypothesis proposed in this paper implies that a small number of fundamental higher order changes may be responsible for influencing a wide range of genetic alterations leading to complex phenotypes, sometimes segregating as distinct entities within pedigrees, or alternatively, and perhaps more commonly, presenting with several overlapping phenotypes in some other families. Current emphasis on the investigation of only pure multiplex families in psychiatric genetics may assist with identification of a number of discrete behaviour-modifying genes, but may not be sufficient for an understanding of the broad underlying genetic diathesis in these, and perhaps other 'multifactorial type' disorders. Validation of a role for altered fragile site expression and the molecular consequences thereof as proposed in this paper may offer additional avenues for gene therapy based either on preferential integration of exogenous DNA at fragile sites, or utilizing the acentric fragments formed during chromosome breakage to modify sequence amplification extrachromosomally.

Animals↗
PubMed2005

Bleeding diathesis in Noonan syndrome.

An 18-year-old girl with Noonan syndrome was operated on for prominent ears. Subcutaneous haematomas developed on both sides, and coagulation tests reported a bleeding diathesis. This is seldom mentioned in descriptions of the syndrome, but it has been shown that one-third of all patients with the syndrome have defects in haemostasis. Extended screening is therefore useful.

Adolescent↗
PubMed2003

Refining diathesis-stress models of depression or introducing ptolemaic epicycles? Commentary on Santor.

Work guided by diathesis-stress models of depression has not been as productive or clinically relevant as hoped. Santor (this issue) suggests some promising refinements of these theories. He proposes more of a contextual focus and addresses temporal instability in presumed diatheses. However, if carelessly applied, the innovations he proposes risk being so accommodating of diverse findings as to be unfalsifiable. Santor also suggests that the selection of coping strategies may be the means by which personality mediates between life events and subsequent depression; though reasonable, this elaboration too can lead to formulations immune to data. Other issues are raised concerning the distinction between fluctuations and disturbances in mood, the role of a history of depression, and operationalization of life events. One immediate solution to some of the problems inherent in this research may be intensive study of more select samples.

Comment↗
PubMed2003

Correction of bleeding diathesis without liver toxicity using arenaviral-pseudotyped HIV-1-based vectors in hemophilia A mice.

Hemophilia A is an inheritable X-linked bleeding disorder most frequently occurring as a consequence of genetic alterations within the factor VIII (FVIII) gene. In the present study, pseudotyped human immunodeficiency virus type 1 (HIV-1)-derived lentivectors expressing hFVIII were assessed for the ability to correct the hemophilia A phenotype in FVIII knockout mice. Therapeutic levels of plasma hFVIII (1-7 ng/mL) were detected in C57B1/6 mice (4-5 weeks old) after portal vein administration of hFVIII-expressing lentivectors pseudotyped with the rhabdoviral vesicular stomatitis viral G protein (VSV-G). More importantly, transduction of hemophilia A mice with FVIII expressing lentivectors resulted in transient correction of the bleeding diathesis phenotype. Moreover, the use of alternate viral pseudotypes based on the lymphocytic choriomeningitis virus (LCMV) resulted in similar circulating levels of FVIII. Interestingly, similar doses of LCMV-pseudotyped lentiviral vectors resulted in minimal systemic or hepatic injury as measured by plasma alanine transferase (ALT), aspartate transferase (AST), and tumor necrosis factor (TNF)-alpha compared to the more commonly used envelope, VSV-G. In summary, these studies demonstrated both the potential merit of lentivectors in terms of correcting monogenic inherited disorders, and also the importance of using alternate pseudotypes, such as LCMV, to safely transfer therapeutic genes in vivo without producing adverse effects.

Alanine Transaminase↗
PubMed2001

Bleeding diathesis in multiple myeloma.

Patients with multiple myeloma having a higher titer of serum paraproteins can manifest hemostatic abnormalities. Most of these abnormalities predispose the patient to hemorrhage. Less commonly, thrombotic complications may occur in association with paraprotein disorders. We investigated a 56-year-old female diagnosed with multiple myeloma (type IgG kappa, 59 g/L) whose coagulation profile showed an increase in thrombin time and prothrombin time. To investigate the etiology of the abnormal coagulopathy, further diagnostic studies including coagulation factor assays, platelet aggregation studies, replitase time, mixing studies using pooled normal plasma, and protamine were performed. Mixing studies demonstrated correction of the prothrombin time. Thrombin time was near-corrected but the replitase-time was not corrected by these mixing studies. After chemotherapy, the paraprotein concentration decreased (12g/L) and the coagulation results returned to normal. Patients with multiple myeloma may develop bleeding diathesis secondary to a variety of mechanisms. One such mechanism is direct inhibition of fibrin monomer aggregation due to the paraprotein, resulting in prolongation of the thrombin time and the replitase time. The failure to correct the former by the addition of protamine further augments the direct role of FAB portion of the paraprotein molecule on inhibition of fibrin monomers.

Blood Coagulation Factors↗
PubMed1995

Acquired von Willebrand's syndrome causing a hemorrhagic diathesis in a patient with hypothyroidism.

The occurrence of bleeding diathesis with menorrhagia and easy bruising may occur in patients with moderate to severe hypothyroidism sometimes linked to acquired von Willebrand's disease (VWD). We describe a patient with profound hypothyroidism in whom the diagnosis of hypothyroidism was established while evaluating uncontrolled gingival bleeding after a dental procedure. Thyroid hormone replacement led to a rise in von Willebrand factor, factor VIIIC, and a significant fall in the elevated bleeding time from 15 to 8 min. Acquired von Willebrand's disease is an unusual manifestation of hypothyroidism and is reversible.

Adult↗
PubMed1992

Angiosarcoma of the colon developing in a capsule of a foreign body. Report of a case with associated hemorrhagic diathesis.

A case of angiosarcoma of the colon is reported. The tumor developed in the fibrous capsule of a retained sponge that was lost 25 years earlier during a gynecologic surgical procedure. The postoperative course was dominated by a fatal consumptive thrombohemorrhagic disorder. Angiosarcoma associated with a retained foreign body and development of hemorrhagic diathesis in angiosarcoma are discussed.

Aged↗