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PubMed1986

[Diathesis and the prevention of asthma and respiratory allergies].

Asthma and respiratory allergies arise from the union of innate (predisposing and hereditary) and acquired factors (e.g. environmental). Without yet being perfectly elucidated there will in the future be a better understanding of the basic concept of the "diathesis" of allergic asthma. It includes the hereditary transmission of sensitising capacity to various major allergens and also of bronchial hyperactivity whose congenital predisposition is shown by studies of groups of twins; but perhaps it is not indispensable to the genesis of asthma, since it apparently may be acquired, as for example in occupational asthma. The understanding of the diathesis enables the prediction of respiratory allergic risk and consequently the early initiation of preventative measures in those new-born at high risk. Together these preventative steps consist of quite a heavy burden, whose efficacy remains imperfect but always timely.

Asthma↗
PubMedDate not supplied

The "molecular man": from the concept of diathesis to HLA associated diseases.

In recent years the concept of biological individuality has found ample acknowledgement in transplantation medicine; yet over 60 years ago Garrod had already grasped its real meaning in terms of a chemical individuality which he in turn envisaged as an explanation for the ancient concept of diathesis. HLA molecules have been recognized as being particularly representative of biological individuality, and their discovery has been followed by the observation that for some diseases there are measurable risks of predisposition which are indeed linked to certain antigenic-molecular HLA conformations. The biological individuality of man is thus acquiring an increasingly well-defined molecular characterization in which ancient diathesis presents a new and effective key for its interpretation.

Disease Susceptibility↗
PubMed1994

Combined segregation and linkage analysis of Graves disease with a thyroid autoantibody diathesis.

Combined segregation and linkage analysis is a powerful technique for modeling linkage to diseases whose etiology is more complex than the effect of a well-described single genetic locus and for investigating the influence of single genes on various aspects of the disease phenotype. Graves disease is familial and is associated with human leukocyte antigen (HLA) allele DR3. Probands with Graves disease, as well as close relatives, have raised levels of thyroid autoantibodies. This phenotypic information additional to affection status may be considered by the computer program COMDS for combined segregation and linkage analysis, when normals are classified into diathesis classes of increasing thyroid autoantibody titer. The ordinal model considers the cumulative odds of lying in successive classes, and a single additional parameter is introduced for each gene modeled. Distributional assumptions are avoided by providing estimates of the population frequencies of each class. Evidence for linkage was increased by considering the thyroid autoantibody diathesis and by testing two-locus models. The analysis revealed evidence for linkage to HLA-DR when the strong coupling of the linked locus to allele DR3 was considered (lod score of 6.6). Linkage analysis of the residual variation revealed no evidence of linkage to Gm, but a suggestion of linkage to Km.

Adolescent↗
PubMed1993

[Does the moment of birth have any significance on recognition of atopic diseases of the respiratory system? II. Incidence of atopic diseases in relation to birth date of children from families with increased atopic diathesis].

The aim of this study was to analyze the birth rates in specific quarters of the year in families with a history of atopic diathesis. One hundred families with atopic diathesis with at least two children older than 16 years were studied. The diagnosis of its atopic etiology and demonstration of the specific allergen were all based on results of a questionnaire, physical examination, results of skin tests and serum levels of allergen specific IgE. In the selected 100 families an analysis of birth rates of 251 children was carried out in each quarter of the year and the effect of this on first atopy symptoms was searched for. It was demonstrated that in these families more children were born with atopy (57%) than without. More than half of the children were sensitive to grass pollens and perennial allergens, and only 20% to the perennial allergens. Most children were born during the second quarter of the year. In this group atopy was four fold more often seen. The results demonstrate that the birth date of children from atopic families is a risk factor for atopy. This implies that family planning should be added to the list of secondary prophylactic measures of atopic diseases.

Asthma↗
PubMedDate not supplied

[Diathesis and predisposition. A molecular reappraisal of the mode of reacting].

The identification of the causes of important infectious and hereditary diseases became scientifically clear in the last years of the nineteenth century and in the first years of the twentieth. Through many centuries, the lack of etiologic knowledge regarding diseases has extraordinarily enhanced the value of the concept of predisposition so that "diathesis" helped to "explain" many forms of morbidity. Several discoveries as to the real "causes" of diseases, however, led to a critical downgrading of its value. But in-depth knowledge regarding the proteins controlled by genes of the "major histocompatibility complex" (MHC, HLA) in man was followed, a few years later, by the demonstration of the fact that carriers of particular alleles are exposed to higher risks of contracting certain diseases than non-carriers of these molecules. A new key for interpretation-this time, a genetic and molecular one-was thus offered for the concept of "predisposition". Actually, man's HLA-associated molecular individuality induces and causes an extraordinarily personal way of reacting to various stimuli. An obvious consequence of this is not only that man, having become aware of his "molecular uniqueness" (which is significantly HLA-related), can view himself as a "biological Ego" but, most of all, that some of his predispositions towards becoming ill may be ascribed to some of his individual molecular characterizations. Thus, the onset and the course of many diseases would be viewed as the effect of a given "way of reacting". This could be recognized as the true essence of diathesis, 18 centuries after Galen.

Disease Susceptibility↗
PubMed1992

Aortic aneurysmal disease. A generalized dilating diathesis.

The association of dilated peripheral arteries with aortic aneurysmal disease has previously been suspected, but is not well documented. To test this association, the diameters of the common femoral, popliteal, brachial, common carotid, internal carotid, and external carotid arteries were measured with a color-flow duplex scan in 30 control subjects and 36 patients with aortic aneurysm matched for age, sex, smoking habits, and hypertension. Mean peripheral artery diameter was significantly greater in patients with aortic aneurysm than in controls at all measurement sites. Peripheral artery dilatation was identified at sites that are seldom, if ever, involved in atherosclerosis. These findings lend support to the view that there is a generalized dilating diathesis in aortic aneurysmal disease that may be unrelated to atherosclerosis.

Aged↗
PubMed1996

Transient hemorrhagic diathesis associated with an inhibitor of prothrombin with lupus anticoagulant in a 1 1/2-year-old girl: report of a case and review of the literature.

Acquired inhibitors of coagulation causing bleeding manifestations are rare in children, particularly without an associated underlying disorder such as autoimmune disease. We describe an otherwise healthy 1 1/2-year-old girl who had extensive spontaneous bruising and prolonged bleeding from venipuncture sites. Prothrombin time (PT) and activated partial thromboplastin time (APTT) were prolonged, with evidence of an immediate-acting inhibitor. Thrombin clotting time, fibrinogen, and platelets were normal. Biologic assay of factors II, V, VII, and X were all low, with increasing values at higher dilutions. However, by immunoassay and/or chromogenic assays, only factor II was reduced. An antibody which failed to neutralize prothrombin activity in vitro was detected against radiolabeled prothrombin. Coagulation studies normalized in parallel with clinical recovery and disappearance of the antibody. This case demonstrates acute hypoprothrombinemia-lupus anticoagulant syndrome as a rare presentation of bleeding diathesis in a healthy young child.

Amino Acid Chloromethyl Ketones↗
PubMed1988

Bleeding diathesis in Noonan syndrome: a common association.

The Noonan syndrome (NS) is a multiple congenital anomalies (MCA) syndrome with well-known manifestations. Excessive bleeding has been described occasionally. We report on 19 patients with NS and a bleeding diathesis. Several different defects are identified in the coagulation and platelet systems occurring singly or in combination. Clinical expression is variable. It is concluded that bleeding diatheses occur in NS at a much higher frequency than previously suspected. Consideration is given to possible relationship to underlying metabolic defects which could explain the diverse nature of the bleeding diatheses and also play a role in the pathogenesis of NS. The variety of bleeding diatheses may also reflect heterogeneity within NS. NS patients frequently undergo surgery with increased risk of bleeding. Appropriate evaluation and management is discussed. Evaluation of all NS patients and their families for bleeding disorders should provide important information about the frequency and type of bleeding diatheses which occur and perhaps help to clarify the etiology and pathogenesis of NS.

Adolescent↗
PubMed1996

The influence of vascular diathesis on the localization of inflammatory foci in renal allografts with a specific antigranulocyte antibody.

Immunoscintigraphy with technetium-99m labelled BW 250/183, a murine monoclonal antibody specific for granulocytes, yielded a false-positive result in a patient suspected of having an abscess in his renal graft. To substantiate the presumption that diathesis and unspecific accumulation of the antibody may have caused this result, ten selected patients were investigated who presented with chronic vascular graft rejection but without signs of bacterial infection. Scintiscans were recorded 4 and 24h after administration of 99mTc-labelled BW 250/183. Graft-background ratios (GBRs) were calculated for each transplant. These were compared with the mean of physiological kidney-background ratios (KBRs) and with bone marrow-background ratios (BMBRs). After removal, the grafts were examined with pathological and immunohistological methods. Seven transplants demonstrated 4-h GBRs (mean: 3.9+/-1.1, P <0.001) significantly outside the range of normal KBRs while three were within the normal range (mean: 1.8+/-0.4). The relation between 4-h and 24-h GBRs varied. After 24h five GBRs still remained increased (mean: 3.2+/-1.4, P <0.05). By contrast the BMBRs decreased uniformly by 18%+/-5%. After graft removal, histopathology demonstrated no dominant granulocyte accumulations but various degrees of chronic vascular and tubulo-interstitial rejection. Immunohistochemical studies did not indicate cross-reactivity of BW 250/183. Increased GBRs of long-standing renal allografts indicate the passage of the antibody through injured vascular walls rather than the presence of granulocyte accumulations. Therefore, variability of GBRs with time reflects changes in transitory concentrations of 99mTc-labelled BW 250/183 in the tissues.

Abscess↗
PubMed2003

Osteogenesis imperfecta with bleeding diathesis.

Osteogenesis imperfecta (OI) is a disorder of type 1 collagen synthesis with varied complications in form of brittle bones, hearing loss, dental, skin, and ocular changes. Osteogenesis imperfecta may have bleeding diathesis rarely due to defective vascular integrity for the same reason. Here we come across a rare case of Sillence type IB Osteogenesis imperfecta with bleeding in the form of repeated epistaxis and petechial rash, which seem to have a collagenous link.

Child↗
PubMed1988

A combination therapy of vitamin K1 and bile acid on hemorrhagic diathesis in patients with decompensated liver cirrhosis.

This paper presents a study of treatment involving vitamin K1 (VK1) accompanied by bile acids for hemorrhagic diathesis that was applied 42 times in 35 patients with decompensated liver cirrhosis. The hepaplastin test (HPT) value showed no change during the administration of VK1 alone. The HPT value elevated significantly, however, after the administration of VK1 with bile acid, especially when using ursodeoxycholic acid (UDCA). The HPT value in patients treated with VK1 in addition to UDCA before treatment with 53.2% +/- 10.2% (mean +/- SD) and after that for 2.1 +/- 1.1 months (mean +/- SD) with 74.7 +/- 16.8% showed a significant difference (p less than 0.001). On the other hand, no significant difference was noted between the HPT value of 57.2 +/- 13.6% before and that of 62.9 +/- 13.9% after the treatment in patients treated using VK1 in conjunction with chenodeoxycholic acid (CDCA). These results indicate that the therapy incorporating VK1 and bile acid, especially UDCA, is useful for reducing the hemorrhagic tendency in patients with decompensated liver cirrhosis who show no improvement using VK1 alone.

Chenodeoxycholic Acid↗
PubMed2002

Eosinophilic myelitis associated with atopic diathesis: a combined neuroimaging and histopathological study.

Histologically proven eosinophilic myelitis has rarely been reported except in connection with parasitism. To clarify its clinicopathological features, we conducted a nationwide survey of biopsy-proven eosinophilic myelitis of unknown cause throughout Japan. Six such cases were collected and studied immunologically and pathologically. All were young to middle-aged men. All showed a protracted and fluctuating course with mild disability for 3-25 (mean 12.5) months before biopsy. Magnetic resonance imaging revealed localized lesions of T2-high and T1-iso signal intensity with a partial gadolinium enhancement in all cases. Cerebrospinal fluid (CSF) examinations were completely normal except for modest pleocytosis in two cases. Eosinophilia was present in the peripheral blood in two cases but was absent from the CSF of all cases. In spite of the chronic nature of the disease, spinal cord pathology revealed very active lesions with marked cell infiltration consisting mainly of CD8(+) T cells and varying numbers of eosinophils in the perivascular areas and the parenchyma. Both the myelin and axons were severely disrupted in all cases. Moreover, eosinophil cationic protein (ECP), an activated eosinophil product, was heavily deposited in the tissues. All but one case had hyperIgEemia and mite antigen-specific IgE in the sera, and two had accompanying atopic disorders. The present study thus revealed idiopathic eosinophilic myelitis to be a localized and persistent inflammation of the spinal cord, with distinct clinicopathological features, that has a possible link to atopic diathesis.

Adult↗
PubMed1976

Hemorrhagic diathesis in a carrier of hemophilia B.

A carrier of hemophilia B was found to have an unusually low factor IX level of 13 per cent. Her history of previous bleeding and the hospital course following elective dental extractions were consistent with a mild hemorrhagic diathesis. The patient is a member of a rare kindred of hemophiliacs. The mean level of factor IX in 12 carriers in this kindred was 42 per cent, with a range of 13 to 100 per cent. This patient represents the sixth reported case in which a female carrier of factor IX deficiency was symptomatic.

Adult↗
PubMed1992

The thrombotic diathesis associated with the presence of phospholipid antibodies may be due to low levels of free protein S.

PURPOSE: To determine if abnormalities in the protein C/protein S anticoagulant system exist in patients with phospholipid antibodies who had the primary clinical complaint of fetal wastage. PATIENTS AND METHODS: Eleven patients with fetal wastage and phospholipid antibodies were selected for study. Some patients also gave a history of previous thrombotic events related to oral contraceptives and/or pregnancy, but patients were not selected because of a history of clinical thrombosis. The levels of protein C (chromogenic assay), protein S (both free and bound) (Laurell rocket), and C4b-binding protein (Laurell rocket) were measured, and assays for the presence of antibodies against protein S or protein C were performed. RESULTS: Seven of the 11 patients were found to have low levels of free protein S. Total protein S and protein C levels were within the normal range in all patients. Antibodies to protein C and protein S were not found in any patient. These findings suggest that free protein S levels may be abnormally low in some patients with phospholipid antibodies. CONCLUSION: Free protein S levels are abnormally low in some patients with phospholipid antibodies, and this abnormality may be a factor contributing to the thrombotic diathesis associated with phospholipid antibodies.

Abortion, Habitual↗
PubMed1990

Non-specific therapy of a hemorrhagic diathesis after a bite by a young Bothrops asper (barba amarilla): a case report.

Hemorrhagic diathesis developed 4 hr after a bite by one fang of a two-month-old specimen of Bothrops asper. Severe allergy to horse serum contraindicated the use of horse antivenom, and a substitution therapy was started 20 hr after the bite. During the following 4 days the patient was treated with infusions of 8 g human fibrinogen, 2500 U of cryoprecipitate, 1000 ml of human plasma and vitamin K in several portions. By means of plasmapheresis 1800 ml of plasma was exchanged. Until plasmapheresis on the third day the treatment resulted in short remission and diminution of the spontaneous bleeding, which ceased on the 5th day. Coagulation tests relevant to disseminated intravascular coagulation and consumption coagulopathy were performed for 12 days. Fibrinogen levels started to rise on the 8th day and normalized 12 days after the bite. Analysis of the venoms from juvenile and adult Bothrops asper snakes revealed that the former has a strong prothrombin-converting activity, the latter contained mainly a thrombin-like, fibrinogen-converting enzyme.

Age Factors↗
PubMed2005

Behavioural inhibition, anxious symptoms, and depressive symptoms: a short-term prospective examination of a diathesis-stress model.

The purpose of the current study was to examine the relationship between behavioural inhibition (BI) and anxious symptoms within a diathesis-stress framework, using a short-term prospective design. In addition, we examined whether BI acts as a specific vulnerability to anxious symptoms, or as a common vulnerability to both anxious and depressive symptoms. At time 1, 384 children in grades 3 through 6 completed self-report measures of BI, anxious symptoms, and depressive symptoms. Six weeks later, they completed self-report measures of hassles, anxious symptoms, and depressive symptoms. Results demonstrated that children with high BI who experienced high levels of hassles during the 6-week follow-up interval showed increases in anxious symptoms, but not depressive symptoms.

Adolescent↗
PubMed2005

A closer look at treatment resistant depression: is it due to a bipolar diathesis?

BACKGROUND: Treatment resistant depression is a common clinical problem. Studies have shown that a large number of patients with depression do not have a satisfactory clinical outcome in spite of adequate trials of antidepressant drugs. In this study, we investigated demographic and clinical characteristics, diagnostic subtypes, and illness outcome of patients with resistant depression and a history of escape of response to adequate trials of at least two antidepressants for a previous episode. METHOD: Sixty-one patients who were seen consecutively at a mood disorders clinic with the diagnosis of "unipolar" treatment resistant depression, and followed up for at least one year, were interviewed using the Structured Clinical Interview for DSM-IV. Prospectively collected data including the occurrence of episodes of hypomania, and supplemental information from family members on illness course were also used for purposes of diagnostic re-evaluation. RESULTS: At intake, 35% of the patients were diagnosed as having a bipolar disorder. At follow-up, there was a 59% prevalence of bipolar disorder. Of the patients with major depressive disorder, 52% were subsequently classified as having bipolar spectrum disorder. The most important finding was that 80% of patients were found to show evidence of bipolarity. Moreover, the most common change in medication was a switch to mood stabilizers. CGI ratings showed significant improvement in functioning from the time of initial consultation. LIMITATIONS: This was a naturalistic study, and the data were collected in a non-blind fashion. CONCLUSIONS: The findings suggest that the majority of cases of unipolar treatment resistant depression, occurring in the context of loss of antidepressant response, have a bipolar diathesis.

Adult↗