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PubMed2006

Characterization of a patient with glycoprotein (GP) VI deficiency possessing neither anti-GPVI autoantibody nor genetic aberration.

BACKGROUND: There have been only seven reported cases of glycoprotein (GP) VI deficiency. However, the pathogenesis of this disorder has not been well-elucidated. OBJECTIVES: We characterized a novel patient with GPVI deficiency and used these platelets to investigate the role of GPVI in normal hemostasis. PATIENT: A 31-year-old female with immune thrombocytopenic purpura who had been suffering from mild bleeding diathesis even after recovery from thrombocytopenia. RESULTS AND CONCLUSION: The patient's platelets did not aggregate in response to either convulxin or collagen-related peptide. Immunoblotting revealed complete absence of the GPVI molecule, whereas a significantly reduced but substantial amount of Fc receptor (FcR) gamma-chain was expressed. Platelet stimulation with convulxin did not induce tyrosine-phosphorylation of FcR gamma-chain, indicating a defect in GPVI-mediated signaling. Concerning the underlying pathogenesis, we found normal level of GPVI-mRNA expression, no aberration of the sequence of the entire coding region of GPVI, and presence of degraded GPVI in her plasma. However, no anti-GPVI autoantibody was detected either by the binding assay to GPVI-Fc2 fusion protein or by immunoblotting/immunoprecipitation using the patient's immunoglobulin. We thus consider that either a short-time exposure to anti-GPVI autoantibody or a continuous exposure to low titers of the autoantibody has resulted in persistent GPVI deficiency. Under high shear flow, the patient's platelets could not form large aggregates, although initial platelet attachment was obviously observed. These results suggest that GPVI deficiency in this patient resulted in defective platelet thrombi development, manifesting as bleeding diathesis. Furthermore, our observations indicate that coordination of GPVI with integrin alpha2beta1 is essential for physiological platelet thrombus formation.

Adult↗
PubMed1983

Contact urticaria from peanut butter.

A patient with multiple atopic allergies, atopic facial dermatitis, and a generalized atopic skin diathesis developed (i) angioedema of the lips and tongue following ingestion of peanut butter, and (ii) localized urticarial reactions following direct skin contact. Open testing with peanut butter demonstrated probable immunologic contact urticaria. The relationship of contact urticaria to the atopic skin diathesis is discussed.

Adult↗
PubMed1992

Epidemiological, clinical and allergological observations on pompholyx.

We have studied a group of 104 patients with pompholyx, to investigate the relationship between allergological factors and its etiopathogenesis. The following examinations were performed: blood sampling (routine tests and IgE levels), allergological tests (patch, prick, intradermal, and oral provovation tests with nickel sulphate), skin biopsy to exclude pemphigus vulgaris or bullous pemphigoid. An accurate history of familial and personal allergic diathesis was enquired for and various possible aggravating factors (season, microclimate, perspiration and emotional stress) were considered. The results were age and sex-matched with a healthy control group (208 subjects). We found familial and personal atopic diathesis in 50% of patients versus 11.5% of controls (p less than 0.001); 39 patients (37.49%) also had high levels of IgE. Nickel sulphate was the allergen with the highest positivity on patch testing: 20.19% versus 6.25% of the control group (p less than 0.001). The % of patients allergic to nickel reached 26%, including those (6 patients) reacting to the oral provocation test. Season (43 patients) and hyperhidrosis (38) were the aggravating factors most commonly claimed. We detected no correlation between age, sex, grading of pompholyx and the allergological parameters investigated. Though several different allergological findings have previously been reported in dyshidrosis, their role in its pathogenesis has not yet been fully explained. We think that different haptens or antigens can produce the same clinical and histological picture of pompholyx in predisposed subjects.

Adolescent↗
PubMed2006

Pediatric primary cutaneous marginal zone lymphoma: in association with chronic antihistamine use.

Primary cutaneous marginal zone lymphoma of the mucosa-associated lymphoid tissue predominantly occurs in adults and is rare in children. There have been no prior reports of this lymphoma occurring in American children. We present a case of a 15-year-old male with a history of atopic diathesis and chronic use of antihistamine agents who presented with an asymptomatic lesion on his left forearm of 6 months duration. Because histopathological and immunohistochemical studies were compatible with marginal zone lymphoma, and the patient had no associated extracutaneous disease, the diagnosis of primary cutaneous marginal zone lymphoma was rendered. Based on the patient's past medical history prior to appearance of lesion, it was postulated that the development of lymphoma was associated with the ingestion of antihistamines and further propagated by his underlying atopic diathesis.

Adolescent↗
PubMed1997

Chronic isolated macrothrombocytopenia with autosomal dominant transmission: a morphological and qualitative platelet disorder.

We studied 47 subjects belonging to 13 unrelated families with a history of mild haemorrhagic diathesis and chronic thrombocytopenia. 36 patients presented some degree of thrombocytopenia: 7/36 (19%) had slight thrombocytopenia (100-150 x 10(9)/L); 26/36 (72%) had mild thrombocytopenia (50-100 x 10(9)/L) and 3/36 (8%) had severe thrombocytopenia (< 50 x 10(9)/L). No correlation was observed between platelet count and the degree of haemorrhagic diathesis, which was mild in the majority of patients. Transmission was autosomal dominant. Platelet anisocytosis, increased percentage of large platelets and absence of leukocyte inclusions were observed in 26/30 (87%) of the examined blood smears. The ultrastructural appearance of platelets was normal. Megakaryocytes appeared normal in number in 10/10 patients, but showed asynchronous nuclear-cytoplasm maturation and mainly nonlobulated nuclei. Platelet aggregation was studied in 26 patients and either increased or decreased curves were variably observed in response to different aggregating agents. Platelet-associated IgG (PAIgG) was increased in 18/31 (58%) patients, while serum autoantibodies against platelet glycoproteins Ib/IX or IIb/IIIa were demonstrable in only 1 case. An increased expression of platelet surface glycoproteins Ib and IIb/IIIa, as studied by murine monoclonal antibodies binding in 17 cases, was observed. Platelet survival performed by 111Inoxine-labelled autologous platelets was normal in the 3 studied patients. Congenital macrothrombocytopenia confirms to be a distinct clinical disorder for which the name of "chronic isolated hereditary macrothrombocytopenia" is proposed.

Adolescent↗
PubMed1985

Deaths from peptic ulceration.

Deaths due to peptic ulceration can be prevented only by curing the ulcer and preventing the ulcer diathesis permanently by either medical or surgical means. Recurrence of ulcers after drug treatment is a major problem, so continuous treatment is often necessary, but there is no evidence that this decreases mortality. Surgery is the only means of permanently removing the ulcer diathesis in most patients, and subsequent mortality is low. A reasonable balance has to be achieved between the two kinds of treatment to prevent most deaths from peptic ulcer.

Age Factors↗
PubMedDate not supplied

Imaging of nontraumatic hemorrhage of the adrenal gland.

Nontraumatic hemorrhage of the adrenal gland is uncommon. The causes of such hemorrhage can be classified into five categories: (a) stress, (b) hemorrhagic diathesis or coagulopathy, (c) neonatal stress, (d) underlying adrenal tumors, and (e) idiopathic disease. Computed tomography (CT), ultrasonography (US), and magnetic resonance (MR) imaging play an important role in diagnosis and management. CT is the modality of choice for evaluation of adrenal hemorrhage in a patient with a history of stress or a hemorrhagic diathesis or coagulopathy (anticoagulant therapy). CT may yield the first clue to the diagnosis of adrenal insufficiency secondary to bilateral massive adrenal hemorrhage; such insufficiency is rare but life threatening. US is the modality of choice for evaluation of neonatal hematoma, and MR imaging is helpful for further characterization. MR imaging is also useful in the diagnosis of coexistent renal vein thrombosis. When an adrenal abscess is suspected, percutaneous aspiration and drainage under imaging guidance should be performed. Hemorrhage into an adrenal cyst or tumor can cause acute onset of symptoms and signs in a patient without discernible risk factors for adrenal hemorrhage. A hemorrhagic adrenal tumor should be suspected when CT or MR imaging reveals a hemorrhagic adrenal mass of heterogeneous attenuation or signal intensity that demonstrates enhancement.

Adrenal Gland Diseases↗
PubMed2006

Pulmonary fibrosis in hermansky-pudlak syndrome. a case report and review.

Hermansky-Pudlak syndrome (HPS) is a rare heterogeneously inherited autosomal recessive group of disorders presenting with oculocutaneous albinism, bleeding diathesis and pulmonary disease. HPS is thought to occur as a consequence of disturbed formation or trafficking of intracellular vesicles, most importantly, melanosomes, platelet dense granules and lysosomes. The latter finding, in particular, contributes much to the morbidity associated with the disease, as ceroid lipofuscin deposits in lysosomes affect many organ systems. This is especially problematic in the lungs where it is often associated with pulmonary fibrosis and premature death. Currently, there are 7 known HPS genes in humans. In the mouse, at least 16 known HPS genes produce HPS-mutant phenotypes. The HPS gene mutation is considered to be one of the most prevalent single-gene disorders in northwest Puerto Rico, home to the largest cohort of known patients. In HPS, interventions addressing the bleeding diathesis and pulmonary fibrosis are often disappointingly ineffectual. Pirfenidone, a novel compound with documented anti-inflammatory, antioxidant and antifibrotic effects, appears to hold promise in delaying or preventing fibrosis. To date, there has been one successful lung transplant performed on a patient with HPS. We present a patient with HPS and review the current literature on our understanding of this rare disorder.

Adult↗
PubMed1989

Platelet dysfunction in acute megakaryoblastic leukemia.

Platelet function profiles were studied in 3 patients with megakaryoblastic leukemia. All patients had a moderate decrease in platelet counts with abnormal platelet retention. One patient who developed hemorrhagic diathesis had prolonged bleeding time. In all patients platelet aggregation was defective after the addition of ADP, collagen, adrenaline, or U46619, a thromboxane A2 agonist. Malondialdehyde was reduced in all patients, as was platelet serotonin. Plasma beta-thromboglobulin levels were normal in all cases whereas PF4 was markedly elevated in one. Platelet dysfunction was not reversed by clinical remission. These studies confirm that megakaryoblastic leukemia is associated with a thrombocytopathy which may play a role in hemorrhagic diathesis and should be taken into account in the management of these patients.

Blood Platelets↗
PubMed1979

Acute promyelocytic leukemia in childhood. Report of a case with a review of the literature.

A rare case of acute promyelcytic leukemia (APL) is reported in a 7-year-old boy. The patient displayed the typical features of APL including impaction of the marrow with promyelocytes, marked elevation of the serum vitamin B12 and transcobalamin I levels and a hemorrhagic diathesis. The bleeding diathesis in the case was due to thrombocytopenia, and there was no evidence for disseminated intravascular coagulation.

Bone Marrow↗
PubMed1980

Multiple acquired haemostatic defects. Case report and review of the literature.

A 14-year-old girl presented with severe haemorrhagic diathesis. Her past history suggested a congenital bleeding disorder. Investigations disclosed severe deficiency of all four vitamin K-dependent factors and a functional defect of platelets. These were caused by simultaneous administration of vitamin K antagonists and anti-inflammatory drugs. A complete clinical and laboratory recovery took place following withdrawal of drugs. The severity of the haemorrhagic diathesis prompted us to describe the case in order to draw the attention of medical personnel to the dangerous potentiation effects of different drugs administered with vitamin K antagonists.

Adolescent↗
PubMedDate not supplied

Thin-layer (liquid-based) cytologic findings of papillary squamotransitional cell carcinoma of the cervix. Review of cases over a 4-year period with emphasis on potential diagnostic pitfalls.

OBJECTIVE: To describe the thin-layer cytology and diagnostic pitfalls of papillary squamotransitional cell carcinoma of the cervix, with clinical and histologic correlation. STUDY DESIGN: The author reviewed the clinical findings, thin-layer cytology and histologic features of papillary squamotransitional cell carcinoma of the cervix encountered at Pamela Youde Nethersole Eastern Hospital, Hong Kong, during the 4-year period January 1998-March 2002. Strict histologic criteria (basaloid/transitional cell-like cells constituted > 70% of the tumor cell population and papillary/anastomosing, frondlike structures seen in > 70% of tumor tissue in superficial biopsies) were employed in defining this entity. RESULTS: During the study period, 10 biopsy cases of carcinoma of the lower female genital tract (9 in cervix and 1 in vagina) fulfilled the above histologic criteria. Six of them had thin-layer cytology performed The preparations were often of moderate to high cellularity and contained three-dimensional, arborizing, papillary clusters of basal/parabasal cells. Discernible fibrovascular cores were sometimes identified. Occasionally at the papillary surface, the basaloid cells were aligned horizontally. High-power cytology of the tumor cells ranged from bland-looking to high grade squamous intraepithelial lesions (HSILs) and sometimes squamous cell carcinoma. Mitotic figures were commonly identified. Tumor diathesis and dyskeratotic cells were occasional. Koilocytosis was not observed. Subsequent tumor biopsies showed evidence of stromal invasion in 3 cases. CONCLUSION: Papillary squamotransitional cell carcinoma has a distinctive appearance in thin-layer cytologic preparations. The predominance of bland-looking basaloid cells or HSIL cells, together with scantiness of tumor diathesis and carcinoma cells, may lead to underdiagnosis. Recognition of the subtle cytologic features and clinical correlation are essential in arriving at a correct diagnosis.

Adult↗
PubMedDate not supplied

Cytologic analysis of primary stomach adenocarcinoma metastatic to the uterine cervix.

OBJECTIVE: To investigate the cytologic and pathologic features of endocervical lesions in cases of gastric adenocarcinoma metastatic to the uterine cervix. STUDY DESIGN: From 1986 to 1994, four patients with gastric adenocarcinoma metastatic to the uterine cervix were treated at our department. The cervical cytologic samples were obtained by swabbing and were stained by the Papanicolaou method. Presence of tumor diathesis, number of atypical cells, cell arrangement, cytoplastic vacuoles, cellular and nuclear diameter, chromatin distribution and size of the nucleolus were investigated. RESULTS: The smear backgrounds were dirty (tumor diathesis) in two cases and clean in two. No significant difference in the number of atypical cells or in cell or nuclear diameter between primary and metastatic adenocarcinoma was shown. Cell arrangement was the different cytologic finding between primary and metastatic adenocarcinoma. Sheetlike or isolated arrangement was seen frequently in metastatic cervical adenocarcinoma. CONCLUSION: Because different cytologic features have been found in past and the present series, cytologic diagnosis of metastatic cervical adenocarcinoma should be made carefully.

Adult↗
PubMed2002

Lack of platelet aggregation abnormality in Hodgkin's disease.

A high risk of venous thromboembolism or an increased bleeding tendency has been reported in patients with clinically diagnosed or occult cancer. That is why, in this study, the presence of platelet dysfunction in patients with newly diagnosed Hodgkin's disease was investigated. Platelet aggregation studies were performed in 31 patients with a mean age of 27.53+/-2.75 years and in 31 healthy volunteers with a mean age of 24.37+/-3.21 years. None of the patients had a history or a finding of bleeding diathesis or thromboembolism. A Lumi-Dual platelet aggregometer (Chrono-Log Corporation, Model 450) was used for platelet aggregation in platelet-rich plasma. Platelet aggregation responses were evaluated with ADP, collagen, epinephrine, and ristocetin. No significant difference could be found when compared with the results of healthy volunteers. In five of the patients, a primary, but not a secondary, response to ADP (2 microg/ml) was obtained (p < 0.02). Platelet dysfunction was not found in patients with newly diagnosed Hodgkin's disease in this study. One of the various pathogenic mechanisms of tumour-related thrombosis or haemorrhagic diathesis may play a role in oncological patients; for this reason, each patient should be investigated individually.

Adenosine Diphosphate↗
PubMed2002

Spectrum of inherited bleeding disorders from Western India.

OBJECTIVE: The study was undertaken to assess the magnitude and diversity of different bleeding disorders in Western India. MATERIALS AND METHODS: 768 cases referred to our Institute for evaluation of an underlying bleeding diathesis were investigated appropriately to detect the cause of the abnormal hemostatic function. RESULTS: 630 patients were diagnosed to have hereditary bleeding diathesis. Amongst these, 598 patients had a coagulation disorder while only 32 patients had a platelet function abnormality. Amongst the coagulation disorders, hemophilia A (70.5%) was the most common disorder followed by hemophilia B (14%) and VWD (10.8%). Glanzman's thrombasthenia (84.3%) was the most common platelet function disorder followed by Bernard-Soulier syndrome (12.5%). Some rare disorders have also been diagnosed. CONCLUSION: In spite of their apparent rarity, India has a substantial number of cases of inherited bleeding disorders. A large number of these patients is referred to many tertiary care institutions. It is therefore desirable that district hospitals must develop their laboratories to detect most of these disorders so that the patients need not travel long distances to get an appropriate diagnosis and proper management. All 1st degree female relatives of severe and moderate hemophilia must get factor assays done because some of them may be vulnerable to post-procedural or post-traumatic bleeding.

Blood Coagulation Disorders, Inherited↗
PubMed1991

Factor XSanto Domingo. Evidence that the severe clinical phenotype arises from a mutation blocking secretion.

Factor X (FX) is a vitamin K-dependent plasma protein required for the intrinsic and extrinsic pathways of blood coagulation. FXSanto Domingo is a hereditary FX deficiency which is characterized clinically by a severe bleeding diathesis. The proposita has a FX activity of less than 1% and a FX antigen of less than 5%. We have determined the molecular basis of the defect in the FXSanto Domingo gene by amplification of all eight exons with polymerase chain reaction and subsequent sequence analysis. The patient is homozygous for a G----A transition in exon I at codon -20 (numbering the alanine at the NH2 terminus of the mature protein as +1), resulting in the substitution of arginine for glycine in the carboxy-terminal part of the signal peptide. This amino acid change occurs near the presumed cleavage site of the signal peptidase. We hypothesized that the mutation might prevent cleavage by the signal peptidase which in turn would impair proper secretion of the FX protein. To test this hypothesis, we compared the expression of wild type and mutant FX cDNA in a human kidney cell line. Wild type and mutant constructs in the expression vector pCMV4 were introduced into the human embryonic kidney cell line 293 by calcium phosphate transfection. FX antigen levels in the supernatant of the cells harboring the wild type construct were 2.4 micrograms/10(7) cells per 24 h, whereas antigen levels in media from cells containing the FXSanto Domingo construct were undetectable. No FX antigen was detected in the cell lysates of cells transfected with the mutant construct. To insure that the difference in protein levels was not due to a difference in steady state levels of mRNA, Northern analysis was performed on RNA from the cell lysates of both constructs. The results showed a transcript of the same size, present in roughly equal amounts, in both cases. Thus, the defect in the signal sequence of FXSanto Domingo exerts its effect posttranscriptionally. FXSanto Domingo is the first described example of a bleeding diathesis due to a mutation in the signal sequence.

Adolescent↗
PubMed2000

Verbal working memory impairment in schizophrenia patients and their first-degree relatives: evidence from the digit span task.

OBJECTIVE: The evidence for verbal working memory deficits in schizophrenia has been inconsistent. Few studies have evaluated verbal working memory in the first-degree relatives of schizophrenia patients, who likely share the genetic diathesis for schizophrenia but not the potential confounds associated with chronic mental illness. METHOD: The Wechsler Digit Span Task was used to investigate verbal working memory in 52 schizophrenia patients, 56 of their first-degree relatives, and 73 nonpsychiatric comparison subjects. RESULTS: The nonpsychotic relatives showed no impairment on the forward digit span task, a measure of general attention, but did show impairment on the backward digit span task, a measure of verbal working memory. Schizophrenia patients showed impairment on both the forward and backward digit span tasks. CONCLUSIONS: These results indicate that the forward and backward digit span tasks tap different cognitive abilities that are differentially associated with the diathesis for schizophrenia. Working memory deficits associated with schizophrenia appear to be generalized and not limited to the spatial modality.

Adult↗
PubMed1988

The pathophysiological and pharmacological basis of peptic ulcer therapy.

Both genetic and nongenetic factors predispose to ulcer diathesis. At the mucosal level ulcers result from an imbalance between aggressive factors and mucosal defense. Ulcer therapy reduces aggressive forces, bolsters defense, or both. Gastric acid, the major aggressive factor, may have its secretion inhibited or it may be partially neutralized by antacids. H2 receptor antagonists competitively block histamine occupancy of H2 receptors on parietal cells, thereby preventing stimulation of adenylate cyclase, cAMP rises, and activation of protein kinase and H+/K+ATPase. Prostaglandins inhibit acid secretion largely by preventing histamine-induced cAMP rises. Proton pump inhibitors bind H+/K+ATPase. Antimuscarinics inhibit acetylcholine receptors on the parietal cell, thereby blocking Ca2+ entry and subsequent activation of protein kinase and the proton pump. Mucosal defense is enhanced by certain prostaglandins, colloidal bismuth subcitrate and sucralfate. Prostaglandins stimulate secretion of bicarbonate and mucus, among other effects. Colloidal bismuth and sucralfate bind to proteins in the ulcer base and stimulate bicarbonate and mucus secretion, partially, in the case of sucralfate, by increasing endogenous prostanoid synthesis. Sucralfate also binds pepsin and bile acids. Colloidal bismuth temporarily eradicates mucosal colonization by Campylobacter pylori, another putative agent in ulcer diathesis.

Antacids↗