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PubMed1995

Ocular findings in the Hermansky-Pudlak syndrome.

BACKGROUND: The Hermansky-Pudlak syndrome (HPS) is defined by the autosomal recessively inherited triad of tyrosinase-positive oculocutaneous albinism, bleeding diathesis and accumulation of ceroid in tissues. Late complications include: interstitial pulmonary fibrosis; inflammatory bowel disease; and renal failure. PATIENTS AND METHODS: We undertook a non-concurrent prospective study of 55 Puerto Rican patients with HPS (age range 1 to 54 yrs; mean = 19.7 yrs). These patients had a comprehensive ocular examination and a systemic evaluation for HPS. RESULTS: Visual acuities ranged from 20/50 to 5/200. All patients had nystagmus. Forty-three patients had strabismus; esotropia was found in 24 patients; exotropia in 18 patients; and one patient had hypertropia. Posterior embryotoxon occurred in 15 patients and Axenfeld anomaly in 4 patients. Iris pigmentation varied from minimal to almost completely normal. Three patients had cataract formation. The retina was typically albinotic with macular hypoplasia. All patients had cutaneous albinism, bleeding diathesis and various systemic manifestations as part of HPS. CONCLUSION: Ocular findings in HPS include reduced visual acuity; congenital nystagmus, strabismus and cataract. Diagnosis of the syndrome ought to be made preoperatively to help minimize the potential complications associated with bleeding diathesis at the time of extraocular muscle and intraocular surgery in patients with HPS.

Adolescent↗
PubMed1999

Hereditary prothrombin deficiency presenting as intracranial haematoma in infancy.

Hereditary deficiency of prothrombin is a rare autosomal recessive bleeding disorder, with severe bleeding diathesis in homozygotes, but rarely resulting in intracranial haematoma. We describe two infants of consanguineous parents, presenting with acute subdural haematoma. Because such haematomas in infancy are highly indicative of trauma caused by child battering and because the socio-economic status of the family was unstable, there was a suspicion of child battering. However, further investigations revealed a bleeding diathesis due to a prothrombin deficiency. DNA analysis of the prothrombin gene showed homozygosity for a novel mutation, substituting Lys for Glu at codon 7 and resulting in decreased specific clotting activity. We discuss the probability of bleeding diathesis versus child battering in the aetiology of intracranial haematoma.

Battered Child Syndrome↗
PubMed2003

A retrospective 5-year study in Moldova of acute renal failure due to leptospirosis: 58 cases and a review of the literature.

BACKGROUND: Renal involvement [as acute renal failure (ARF)] is a prominent feature of both mild and severe leptospirosis-a re-emerging infectious disease. Few large series describe in detail clinical and laboratory features of cases with ARF and their outcome. METHODS: We performed a retrospective analysis (1997-2001) of all consecutive, serological confirmed leptospirosis cases with ARF (n=58, 53 male, age 44+/-13 years, rural residents=31%, animal contact=88%. RESULTS: Clinical manifestations (>50% prevalence): oliguria 95%, fever and jaundice 93%, nausea and vomiting 83%, haemorrhagic diathesis 80%, headache, hepatomegaly 76%, myalgias, abdominal pain 70%, hypotension 62%, disturbed consciousness 50%. A pattern of multiple organ failure (MOF) was frequent: ARF together with hepatic failure in 72%, respiratory failure in 38%, circulatory failure in 33%, pancreatitis in 25% and rhabdomyolysis in 5% of cases. Renal dysfunction: 35% of cases had a renal K(+)-wasting defect and 43% a FE(Na)(+)>1% and low-osmolarity urine despite volume depletion. Haematuria was encountered in 12 and mild proteinuria in 10 subjects. OUTCOME: 26% deaths, 64% normal hepatic and renal function at 90 days from presentation (however 29% maintained the initial tubular defect), 10% persistent mild renal failure. All deceased patients had, beside ARF, at least two other organ failures, affected consciousness, and haemorrhagic diathesis vs a prevalence for the above features of only 34, 33, and 72%, respectively, in the survivors group (P<0.05). CONCLUSIONS: Leptospirosis presenting with ARF is a severe disease, frequently leading to MOF and to death in one-third of the patients. In particular, the haemorrhagic diathesis and cerebral involvement are markers for unfavourable patient and renal outcomes.

Acute Kidney Injury↗
PubMed1978

Asthma, allergy and bronchial hyper-reactivity to histamine in patients with bronchiectasis.

An allergy examination was made on forty-eight consecutive bronchiectasis patients, with a mean age of 37 years. Eleven had confirmed asthma and another nine, making twenty in all (42%), had distinct allergic diathesis. Allergy to a specific allergen was established in five cases. 50% of the patients in the total series had bronchial histamine hyper-reactivity, eleven without asthma or distinct allergic diathesis. The results corroborate views previously reported of the role of asthmatic symptoms and allergic diathesis as aetiological factors of bronchiectasis.

Adolescent↗
PubMed1984

Headaches after childbirth.

71 women were examined daily for the presence of headache in their first post partum week. Post natal headache (PNH) occurred in 27, (39%) of the women and was most frequent on days 4-6 post partum. PNH was significantly associated with a previous or family history of migraine and pre-menstrual migraine. Although 83% of those with PNH had a migraine diathesis, they did not describe their headache as one of their usual migraines as it was considerably milder. Headaches were more frequent among multigravida but as rather more multigravida had a previous migraine diathesis this may reflect a sampling bias. PNH subjects had significantly more tension and depression suggesting that at least some PNH may be tension headache. Around 3 or 4 days post partum, women began to lose weight and the onset of headache often coincided with the start of this weight loss. 12 women with, and 12 without PNH took part in a metabolic study, and collected sequential 24 h urine samples from days 2-7 post partum. Potassium and oestrogen excretion were increased on day 3, and progesterone on days 3, 4 and 5. Differences in the excretion pattern of these hormones might reflect small changes in renal function and further work measuring plasma hormone levels could help to clarify this. PNH, like pre-menstrual headache and pill withdrawal headache may represent a further example of the triggering effect that a fall in sex hormone level has on the migraine diathesis.

Adolescent↗
PubMed1999

Developmental neuropathology and the precursors of schizophrenia.

Changes in the manifestation of vulnerability to schizophrenia across the lifespan may hold important clues about aetiology. They may also illustrate some general principles about the nature of neurodevelopmental processes. Within the framework of a neural diathesis-stress model, we review findings on the precursors of schizophrenia and schizotypal personality disorder. The findings suggest that there are critical developmental periods for the manifestation of dysfunction and that, within certain domains of behaviour, there is a temporal disjunction between the onset of the neuropathology and its expression. It also appears that the diathesis for schizophrenia involves polymorphic behavioural expression, such that it can be manifested in multiple domains - motoric, cognitive and socio-emotional. Taken together, the data on the longitudinal course of schizophrenia indicate that the expression of the diathesis is moderated by central nervous system maturational processes. One putative moderating system, the hypothalamic-pituitary-adrenal (HPA) axis, is discussed, and implications for preventive intervention are explored.

Age Factors↗
PubMed1987

alpha 2-Antiplasmin Enschede: dysfunctional alpha 2-antiplasmin molecule associated with an autosomal recessive hemorrhagic disorder.

alpha 2-Antiplasmin (alpha 2-AP) is a major fibrinolysis inhibitor, whose complete, congenital absence has been found to be associated with a distinct hemorrhagic diathesis. We studied a 15-yr-old male with a hemorrhagic diathesis after trauma from early childhood on. This bleeding tendency was associated with a minimal alpha 2-AP level recorded functionally in the immediate plasmin inhibition test: less than or equal to 4% of normal. However, a normal plasma concentration of alpha 2-AP antigen (83%) was found. His sister (5 yr old) showed similar results (2 and 92%). In their family, eight heterozygotes could be identified by half-normal activity results and normal antigen concentrations. The inheritance pattern is autosomal recessive. On analysis, the alpha 2-AP of the propositus was homogeneous in all respects tested, suggesting a homozygous defect. We designated the abnormal alpha 2-AP as alpha 2-AP Enschede. alpha 2-AP Enschede showed the following characteristics: (a) complete immunological identity with normal alpha 2-AP; (b) normal molecular weight (sodium dodecyl sulfate-polyacrylamide gel electrophoresis); (c) normal alpha-electrophoretic mobility; (d) presence in plasma of both molecular forms excluding an excessive conversion to the less reactive non-plasminogen-binding form; (e) quantitatively normal binding to lys-plasminogen and to immobilized plasminogen kringle 1-3; and (f) normal Factor XIII-mediated binding to fibrin. Functional abnormalities were found in: (i) no inhibition of amidolytic activities of plasmin and trypsin, even on prolonged incubation; (ii) no formation of plasmin-antiplasmin complexes in plasma with plasmin added in excess; and (iii) no inhibition of fibrinolysis by fibrin-bound alpha 2-AP. In the heterozygotes, the presence of abnormal alpha 2-AP did not interfere with several functions of the residual normal alpha 2-AP. One-dimensional peptide mapping showed an abnormal pattern of papain digestion. We conclude that in this family, abnormal antiplasmin molecules, defective in plasmin inhibition but with normal plasminogen-binding properties, have been inherited. The residual plasminogen-binding properties do not protect against a hemorrhagic diathesis.

Adolescent↗
PubMed1999

Toward a clinical model of suicidal behavior in psychiatric patients.

OBJECTIVE: Risk factors for suicide attempts have rarely been studied comprehensively in more than one psychiatric disorder, preventing estimation of the relative importance and the generalizability of different putative risk factors across psychiatric diagnoses. The authors conducted a study of suicide attempts in patients with mood disorders, psychoses, and other diagnoses. Their goal was to determine the generalizability and relative importance of risk factors for suicidal acts across diagnostic boundaries and to develop a hypothetical, explanatory, and predictive model of suicidal behavior that can subsequently be tested in a prospective study. METHOD: Following admission to a university psychiatric hospital, 347 consecutive patients who were 14-72 years old (51% were male and 68% were Caucasian) were recruited for study. Structured clinical interviews generated axis I and axis II diagnoses. Lifetime suicidal acts, traits of aggression and impulsivity, objective and subjective severity of acute psychopathology, developmental and family history, and past substance abuse or alcoholism were assessed. RESULTS: Objective severity of current depression or psychosis did not distinguish the 184 patients who had attempted suicide from those who had never attempted suicide. However, higher scores on subjective depression, higher scores on suicidal ideation, and fewer reasons for living were reported by suicide attempters. Rates of lifetime aggression and impulsivity were also greater in attempters. Comorbid borderline personality disorder, smoking, past substance use disorder or alcoholism, family history of suicidal acts, head injury, and childhood abuse history were more frequent in suicide attempters. CONCLUSIONS: The authors propose a stress-diathesis model in which the risk for suicidal acts is determined not merely by a psychiatric illness (the stressor) but also by a diathesis. This diathesis may be reflected in tendencies to experience more suicidal ideation and to be more impulsive and, therefore, more likely to act on suicidal feelings. Prospective studies are proposed to test this model.

Adolescent↗
PubMed2004

Prospective study of clinical predictors of suicidal acts after a major depressive episode in patients with major depressive disorder or bipolar disorder.

OBJECTIVE: The authors investigated the predictive potential of a stress-diathesis model for suicidal behavior based on correlates of past suicidal acts. In this model, suicidal acts are precipitated by stressors such as life events or a major depressive episode in the setting of a propensity for acting on suicidal urges. This diathesis is expressed as the tendency to develop more pessimism in response to a stressor and/or the presence of aggressive/impulsive traits. The predictive potential of the diathesis was tested by determining whether clinical correlates of past suicidal behavior predict suicidal acts during a 2-year follow-up of patients with a major depressive episode. METHOD: Patients with DSM-III-R major depressive disorder or bipolar disorder (N=308) were assessed at presentation for treatment of a major depressive episode. Potential predictors of suicidal acts in the 2 years after study enrollment were identified on the basis of an association with previous suicidal behavior and were tested by using Cox proportional hazards regression analysis. In addition, pessimism and aggression/impulsivity factors were generated, and their predictive ability was tested by using Cox proportional hazards regression analysis. RESULTS: The three most powerful predictors of future suicidal acts were a history of suicide attempt, subjective rating of the severity of depression, and cigarette smoking, each of which had an additive effect on future risk. The pessimism and aggression/impulsivity factors both predicted suicidal acts, and each factor showed an additive effect. CONCLUSIONS: In addition to obtaining a history of suicidal behavior, clinicians may find it useful to assess patients' current level of pessimism, aggressive/impulsive traits, and comorbidity with substance use disorders, including nicotine-related disorders, to help identify patients at risk for suicidal behavior after major depression. Interventions such as aggressive pharmacotherapeutic prophylaxis to prevent relapse or recurrence of depressive symptoms may protect such at-risk individuals from future suicidal behavior.

Adult↗
PubMed1997

Hemoptysis: etiology, evaluation, and outcome in a tertiary referral hospital.

OBJECTIVES: Hemoptysis, an important and alarming symptom, often indicates serious disease. This study was designed to assess the different causes of hemoptysis, the relative importance of the different diagnostic modalities employed, and the outcome in an Israeli population cohort. DESIGN: A retrospective analysis of 208 patients with hemoptysis at the Hadassah University Hospital, Jerusalem, Israel between January 1980 and August 1995. RESULTS: Bronchiectasis (20%), lung cancer (19%), bronchitis (18%), and pneumonia (16%) accounted for most causes of hemoptysis. In contrast to older studies, active tuberculosis was a rare finding (1.4%). Bronchiectasis and bleeding diathesis were major causes of moderate to severe hemoptysis while bronchitis and lung cancer were commonly associated with milder degrees of bleeding. CT scan was the most sensitive diagnostic test when employed alone, with a positive yield of 67%. However, it failed to locate at least three cases of lung cancer. When combining a CT study together with a bronchoscopy, the positive yield increased to 93%. The mortality rate for patients with mild to moderate hemoptysis was low (2.5% and 6%, respectively), while patients with massive hemoptysis had high mortality rates (38%). Patients with lung cancer or bleeding diathesis had higher mortality rates compared with the rest of the cohort. CONCLUSIONS: Hemoptysis is a common symptom with a good prognosis in most cases. However, patients exhibiting massive bleeding or those with lung malignancy and patients with bleeding diathesis had a poorer prognosis. Patients older than 50 years with a positive smoking history need an extensive evaluation and follow-up to exclude lung carcinoma. The combined use of bronchoscopy and chest CT has the best yield in evaluating hemoptysis.

Bronchiectasis↗
PubMed2001

The contribution of early traumatic events to schizophrenia in some patients: a traumagenic neurodevelopmental model.

The current diathesis-stress model of schizophrenia proposes that a genetic deficit creates a predisposing vulnerability in the form of oversenstivity to stress. This model positions all psychosocial events on the stress side of the diathesis-stress equation. As an example of hypotheses that emerge when consideration is given to repositioning adverse life events as potential contributors to the diathesis, this article examines one possible explanation for the high prevalence of child abuse found in adults diagnosed schizophrenic. A traumagenic neurodevelopmental (TN) model of schizophrenia is presented, documenting the similarities between the effects of traumatic events on the developing brain and the biological abnormalities found in persons diagnosed with schizophrenia, including overreactivity of the hypothalamic-pituitary-adrenal (HPA) axis; dopamine, norepinephrine, and serotonin abnormalities; and structural changes to the brain such as hippocampal damage, cerebral atrophy, ventricular enlargement, and reversed cerebral asymmetry. The TN model offers potential explanations for other findings in schizophrenia research beyond oversensitivity to stress, including cognitive impairment, pathways to positive and negative symptoms, and the relationship between psychotic and dissociative symptomatology. It is recommended that clinicians and researchers explore the presence of early adverse life events in adults with psychotic symptoms in order to ensure comprehensive formulations and appropriate treatment plans, and to further investigate the hypotheses generated by the TN model.

Adult↗
PubMed1999

Toward a model of the pathogenesis of chronic pain.

There is widespread agreement that chronic pain develops from, and is maintained by, a combination of neurobiological, psychological, and social factors. Nevertheless, few comprehensive models have been proposed that present specific testable predictions about how these factors interact. We propose a vulnerability-diathesis-stress model of the pathogenesis of chronic pain. This model is based on diathesis-stress models of psychopathology and on the results of recent research on psychosocial aspects of chronic pain. The goals of research on chronic pain are to understand its pathogenesis, improve its treatment, and prevent its development. To achieve these goals, prospective studies of the development and maintenance of chronic pain are needed. The vulnerability-diathesis-stress model can serve as a basis for designing and analyzing studies of the interaction among biological, psychological, and social risk factors for chronic pain.

Chronic Disease↗
PubMed2002

Atopy and neural damage.

The occurrence of myelitis with atopic diathesis (atopic myelitis) affecting young adults has recently been noted in Japan. The disease preferentially affects the posterior column of the cervical spinal cord, as shown clinically and by MRI. It is characterized by hyperIgEaemia and the presence of mite antigen-specific IgE. The spinal cord lesions have been shown to be eosinophilic inflammation on biopsy and thus an allergic mechanism is thought to be operative in this condition. In addition, we also found that Hirayama disease, juvenile muscular atrophy of the distal upper extremity, is also associated with airway allergy such as allergic rhinitis and atopic asthma. In children, poliomyelitislike illness after acute asthma attacks is well known as Hopkins syndrome. Moreover, by the prospective study of the history of allergic disorders in common neurologic diseases, an association between spinal progressive muscular atrophy (SPMA) and asthma as well as between myelitis and atopic dermatitis has been demonstrated. These observations strongly suggest a link between atopic diathesis and spinal cord damage. Central nervous system damage associated with atopic diathesis may be classified into two types; eosinophilic myelitis preferentially affecting the cervical spinal cord and lower motor neuron damage, such as Hopkins syndrome, Hirayama disease and SPMA. The former is typically associated with atopic dermatitis while the latter, with airway allergy.

Humans↗
PubMed1976

Biological potency of selenium from sodium selenite, selenomethionine, and selenocystine in the chick.

Experiments were conducted to determine the relative effectiveness of selenium (Se) from sodium selenite, selenomethionine and selenocystine for promoting weight gain and preventing exudative diathesis. The chicks used were hatched from eggs low in Se. They were fed a basal diet made up mostly of corn (low in Se) and torula yeast or the basal diet supplemented with various levels of Se from sodium selenite, selenomethionine, or selenocystine. At 10 mug. of added Se per kg of diet, sodium selenite and selenocystine were about equal in promoting weight gain and preventing exudative diathesis. Selenomethionine was less effective. Tissues from chicks fed the various Se sources providing 60 mug. Se per kg of diet for four weeks were analyzed for Se. The content of tissues from chicks fed sodium selenite or selenocystine was similar. Chicks fed selenomethionine had a higher concentration of Se in the pancreas and breast muscle than chicks fed the other two Se sources, but a lower concentration in the kidney, liver, and heart. The level of Se in the kidney, liver, or heart which a Se source produces seems to be more important for preventing exudative diathesis than that which is found in the pancreas or muscle.

Animals↗
PubMed1994

[The effect of stressor experiences and optimism upon stress responses].

The present studies investigated whether or not optimism/pessimism is a cognitive mediator of future depression for people who have experienced many negative life events. Subjects were administered optimism scales, stress response scales at Time 1. They then completed the stressor scale and stress response scales at Time 2, about six weeks later. The results showed the interaction of stressor experiences and optimistic diathesis: Subjects who have higher stressor experiences and higher stable and global explanatory style for negative events showed higher depressive responses. Other indices of optimistic diathesis--Life Orientation, Cognitive Style, and Internality dimension of Attributional Style--did not produce this interaction effect. Moreover, this interaction did not appear in the psychological stress response other than depression. These results were consistent with diathesis-stress model of depression.

Adult↗
PubMed1999

Dissecting aortic aneurysm complicated with acute disseminated intravascular coagulation: case report.

Acute disseminated intravascular coagulation (DIC) is a rare complication of aortic aneurysm with or without dissection. We describe an 88-year-old man who presented with severe hemorrhagic diathesis and a pulsating abdominal mass. An abdominal computed tomography (CT) scan revealed a dissecting abdominal aortic aneurysm with thrombus formation, and his coagulation profile showed the features of acute DIC. After he had received blood component therapy, including fresh frozen plasma and cryoprecipitate concentrates, and intravenous heparin infusion (10,000 U/day), the bleeding diathesis and coagulopathy improved. An aneurysmectomy was performed smoothly without excessive bleeding. Coagulation parameters returned to normal after surgery. Dissecting aortic aneurysm should be considered as a possible etiology of acute disseminated intravascular coagulation, even it occurs in rare situations. Surgical intervention is still the main strategy to normalize coagulopathy. Bleeding diathesis must be corrected before surgery in order to prevent massive intraoperative bleeding.

Acute Disease↗
PubMed1975

Neutralization of heparin after extracorporeal circulation.

In a two group-study of patients with and without postoperative haemorrhagic diathesis after ECC tests were undertaken to ascertain whether a postoperative haemorrhagic diathesis after neutralization of Heparin is due to the use of protamine-chloride or stet to a preoperative existing disturbance of the coagulation system. At the end of the ECC, a strongly marked fibrinolysis has been found to take place, together with an increased turnover of coagulation factors i.e. DIC. These results indicate that we are not concerned with a primary fibrinolysis, which would be characterized by plasminaemia, but rather with a reactive fibrinolysis. This coagulation disturbance was more marked in the group with postoperative haemorrhagic diathesis and it became even more pronounced after neutralization with protamine-chloride. From the results we obtained in our tests, the bleeding which occurs after the neutralization of heparin with protamine-chloride can be explained by increased DIC. We think a so-called "heparin-rebound-effect" is improbable as a cause of this postoperative bleeding complication. When there is DIC at the end of the by-pass time, one should avoid neutralizing the heparin and continue the heparin treatment for the same reason.

Disseminated Intravascular Coagulation↗
PubMed2003

[Neural damage associated with allergic diseases: pathomechanism and therapy].

We disclosed the occurrences of myelitis with atopic diathesis preferentially affecting the cervical spinal cord in Japan. Recent nationwide survey revealed that this condition occurs throughout Japan. The characteristic features are: (1) young to middle-aged adults with atopic diathesis are affected, (2) stepwise progression and fluctuation of the symptoms are frequent, (3) paresthesia and dysesthesia are the initial and predominant symptoms while severe motor weakness is rare, (4) CSF abnormalities are infrequent and mild, (5) hyperIgEaemia and mite antigen-specific IgE are present in most cases and eosinophilia is present in about half cases, (6) cervical spinal cord is affected most frequently by clinical symptomatology and on MRI. In this condition, plasma exchange is beneficial in about 80% while corticosteroids are effective only in 50%. The spinal cord biopsy specimens demonstrated its neuropathology to be eosinophilic myelitis involving myelin as well as axon. We also found that Hirayama disease is associated with airway allergy such as allergic rhinitis and atopic asthma. In children, poliomyelitis-like illness after acute asthma attacks is well known as Hopkins syndrome. These findings strongly suggest a link between atopic diathesis and spinal cord damage.

Adolescent↗