1/107. Two separate episodes of hemophagocytic syndrome at a two-year interval in an apparently immunocompetent male.We describe two separate episodes of hemophagocytic syndrome (HPS) at an interval of two years in a seemingly immunocompetent male. This case suggests the possible existence of an inherent predisposition to HPS, in which otherwise negligible self-limited viral infection may trigger HPS. Laboratory data for a 16-year-old boy admitted with persistent high grade fever and severe thrombocytopenia disclosed coagulation abnormality, liver damage, and hypercytokinemia. A bone marrow aspiration revealed a proliferation of histiocytes with fresh hemophagocytosis. We diagnosed that he was suffering from HPS. Responding to steroid pulse therapy, he recovered completely and was discharged. After two years of healthy life, he became febrile again and was readmitted. The fever was refractory to antibiotics and was associated with a sudden drop in platelet count. Laboratory data and the bone marrow picture were consistent with those of HPS. He was again successfully treated with steroid. After the second episode, he has been healthy for more than two years.- - - - - - - - - - ranking = 1keywords = predisposition (Clic here for more details about this article) |
2/107. Homozygous deletion of the CYP21A-TNXA-RP2-C4B gene region conferring C4B deficiency associated with recurrent respiratory infections.The central class III region of the human major histocompatibility complex contains highly polymorphic genes that are associated with immune disorders and may serve as susceptibility factors for viral infections. Many HLA haplotype specific rearrangements, duplications, conversions and deletions, occur frequently in the C4 gene region. Genetic deficiencies of complement components are associated with recurrent occurrence of bacterial infections. We have studied the complement profile and the class III genes 5'-RP1-C4A-CYP21A-TNXA-RP2-C4B-CYP21B-TNXB -3' in a 4-year-old Caucasian patient. He has suffered from several pneumonias caused by respiratory viruses, eight acute otitis media, prolonged respiratory infections and urinary tract infection. complement c4 was constantly low, but the other complement components, from C1 to C9, C1INH, factor B and properdin, were within normal limits. Immunological evaluation gave normal lymphocyte numbers and functions with the exception of subnormal T cell response to pokeweed mitogen. Molecular studies of the C4 gene region in the patient revealed homozygous deletion of CYP21A-TNXA-RP2-C4B generating total deficiency of C4B and the flanking 5' region up to C4A, and in the father a missing CYP21A gene. Further investigations are needed to elucidate the relationship between C4B deficiency and susceptibility to infections.- - - - - - - - - - ranking = 0.28375754199079keywords = susceptibility (Clic here for more details about this article) |
3/107. Catastrophic arterial reactivity during primary antiphospholipid syndrome--a case report.Arterial reactivity leading to acute thrombosis at the site of a needle stick injury has never been described during antiphospholipid syndrome. The authors report a case characterized by a succession of thrombotic events occurring during or immediately after arterial angiographies or arterial surgery, in which catastrophic arterial reactivity can be strongly suspected. In this particular patient, it can be postulated that damage to the endothelial cells of the vessels injured during manipulation may have precipitated or aggravated the preexisting susceptibility to thrombosis.- - - - - - - - - - ranking = 0.14187877099539keywords = susceptibility (Clic here for more details about this article) |
4/107. Persistent bacillus licheniformis bacteremia associated with an international injection of organic drain cleaner.In recent years manufacturers have developed several products containing saprophytic bacteria, previously believed to be of minimal pathogenicity. We describe the first case of persistent bacillus licheniformis bacteremia occurring after intentional injection of a consumer product that includes B. licheniformis spores. We postulate that these spores remained in the tissue, unaffected by antimicrobials, ultimately necessitating soft-tissue debridement of the area surrounding the injection site. On the basis of this case and a review of the literature, we submit that some consumer products contain bacteria with demonstrated pathogenicity. Manufacturers should study these bacteria in detail in order to rapidly provide information such as bacteriologic data and antimicrobial susceptibility data to clinicians.- - - - - - - - - - ranking = 0.14187877099539keywords = susceptibility (Clic here for more details about this article) |
5/107. Recurrent orbital myositis: report of a familial incidence.BACKGROUND: In orbital myositis, painful diplopia develops owing to an enlargement of the extraocular muscles. diagnosis is established based on history, clinical manifestations, and therapeutic response to steroids, with the findings of magnetic resonance imaging providing additional information. observation: We observed a family in which 4 members had an ophthalmopathy suggestive of orbital myositis. The affected members are a sibling pair (female and male) and 2 children of the brothers of their father's father. CONCLUSION: The familial incidence suggests a potential genetic predisposition in the development of orbital myositis.- - - - - - - - - - ranking = 36.542566133819keywords = genetic predisposition, predisposition (Clic here for more details about this article) |
6/107. Eosinophilic cellulitis following the lines of Blaschko.Eosinophilic cellulitis is an inflammatory dermatosis of unknown aetiology. We describe a case following the lines of Blaschko, which may be the expression of cutaneous mosaicism, suggesting a possible underlying genetic predisposition for the development of Wells' syndrome.- - - - - - - - - - ranking = 36.542566133819keywords = genetic predisposition, predisposition (Clic here for more details about this article) |
7/107. Refractory vasospasm with a malignant course.We present a patient with two rare disorders, recurrent vasospastic angina leading to cardiac transplant and acute aortic occlusion. The patient had recurrent episodes of coronary vasospasm presenting with unstable angina, acute myocardial infarction, and sudden cardiac death in spite of adequate therapy with nitrates and calcium-channel blockers. He went on to have a cardiac transplant. The patient later presented with acute aortic occlusion with concomitant renal and mesenteric artery spasm. The circumstances of the presentation raise the possibility of a generalized vasospastic predisposition that is responsible for both events. smoking, the only known major risk factor other than atherosclerosis, was noted to be temporally related to both events in our patient.- - - - - - - - - - ranking = 1keywords = predisposition (Clic here for more details about this article) |
8/107. ICD hardware failure associated with multiple internal shocks.The delivery of 37 shocks by an ICD within 20 minutes, in response to T wave oversensing during atrial flutter, resulted in several manifestations of undesirable device behavior. The generator reverted to backup mode, and disabled automatic capacitor reformation, therapy delivery, and automatic gain control. Postexplant analysis of the device revealed damage to the high voltage output section of the circuitry consistent with excessive electrical stress. In rare circumstances, multiple internal discharges can result in serious clinical anomalies in ICD behavior, and possibly in an increase in susceptibility to circuitry damage.- - - - - - - - - - ranking = 0.14187877099539keywords = susceptibility (Clic here for more details about this article) |
9/107. Heterotopic ossification in childhood and adolescence.Heterotopic ossification, or myositis ossificans, denotes true bone in an abnormal place. The pathogenic mechanism is still unclear. A total of 643 patients (mean age, 9.1 years) admitted for neuropediatric rehabilitation were analyzed retrospectively with respect to the existence of neurogenic heterotopic ossification. The purpose of this study was to obtain information about incidence, etiology, clinical aspect, and consequences for diagnosis and therapy of this condition in childhood and adolescence. Heterotopic ossification was diagnosed in 32 patients (mean age, 14.8 years) with average time of onset of 4 months after traumatic brain injury, near drowning, strangulation, cerebral hemorrhage, hydrocephalus, or spinal cord injury. The sex ratio was not significant. In contrast to what has been found in adult studies, serum alkaline phosphatase was not elevated during heterotopic ossification formation. A persistent vegetative state for longer than 30 days proved to be a significant risk factor for heterotopic ossification. The incidence of neurogenic heterotopic ossification in children seems to be lower than in adults. A genetic predisposition to heterotopic ossification is suspected but not proven. As a prophylactic regimen against heterotopic ossification we use salicylates for those patients in a coma or persistent vegetative state with warm and painful swelling of a joint and consider continuous intrathecal baclofen infusion and botulinum toxin injection for those patients with severe spasticity. We prefer to wait at least 1 year after trauma before excision of heterotopic ossification.- - - - - - - - - - ranking = 36.542566133819keywords = genetic predisposition, predisposition (Clic here for more details about this article) |
10/107. Recurrent umbilical cord torsion leading to fetal death in 3 subsequent pregnancies: a case report and review of the literature.During a span of 3.5 years, a 30-year-old, gravida 9, para 3 woman experienced 3 pregnancies complicated by umbilical cord torsion and constriction. In each case, the complication resulted in acute vascular compromise and intrauterine fetal demise. Gross examination disclosed cord constriction and torsion at the fetal end of the cord in each instance. Histologic sections from the cord torsion sites demonstrated fibrosis and deficiencies in Wharton's jelly in each case. Cytogenetic studies prepared using fetal villous tissue demonstrated normal karyotypes in fetal cells from the first 2 pregnancies (46,XX and 46,XY, respectively). The karyotype from the third pregnancy showed a 46,XX,del(X)(q24) mutation in 3 of 15 cultured cells, while 12 of 15 cells possessed a normal 46,XX karyotype. This cytogenetic abnormality was not believed to represent the cause of fetal demise in this case. To our knowledge, this is the first report of umbilical cord torsion in 3 pregnancies within one family. The familial clustering observed in this report suggests that a genetic predisposition for umbilical cord torsion may exist in some cases.- - - - - - - - - - ranking = 36.542566133819keywords = genetic predisposition, predisposition (Clic here for more details about this article) |
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