1/19. Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes.Short rib-polydactyly syndromes (SRPS) are a heterogeneous group of recessively inherited lethal skeletal dysplasias. Four types have been recognised. However, overlap in the clinical and radiological features of the four types has led to difficulties in distinguishing between them. The congenital infection-like syndrome is an autosomal recessive syndrome characterised by mental retardation, microcephaly, seizures, and intracranial calcifications. We report a complex consanguineous family of Baluchi origin in whom short rib-polydactyly type III and congenital infection-like syndrome are segregating. Four children inherited SRPS III, one inherited congenital infection-like syndrome, and one inherited both. Although the radiological features in all the children with SRPS in this report were typical of type III, there was overlap in the clinical features with the other types of SRP syndromes. Furthermore, the child who inherited both SRPS III and congenital infection-like syndrome had CNS malformations in addition to periventricular calcification. CNS malformations have been described in SRPS types II and IV but not type III. This report further highlights the overlap between the different types of SRP syndrome. Moreover, it draws attention to the importance of considering the possibility of two recessive syndromes in the same child in complex consanguineous families when features overlap two syndromes.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
2/19. Assessment of immunological status in the critically ill.The systemic inflammatory response (SIRS) results from various types of injuries such as severe infection, trauma, ischemia-reperfusion and major surgery including cardiac surgery with cardio-pulmonary bypass. This response involves immune cell activation and a complex network of proinflammatory cytokines, which may induce multiple organ failure when uncontrolled. The monocyte plsys a central role in the response to infection with the release of TNF-alpha, IL-1 beta, and IL-12. In addition, monocytes present antigens to T lymphocytes. An optimal antigen presentation requires the expression of MHC class II HLA-DR on monocytes surface and of costimulatory molecules such as CD54 on monocytes and LFA-1 on lymphocytes. It has become increasingly apparent that the proinflammatory response is balanced by concomitant anti-inflammatory mechanisms that results in monocyte deactivation, characterized by a decrease in HLA-DR expression and the release of anti-inflammatory cytokines such as IL-10. This counterregulatory response, if prolonged or predominant, may predispose the patient to a higher risk of infection. Further studies need to be conducted to precise: i) the intensity of depression of the surface molocule expression assessing monocyte function, such as HLA DR and CD54; ii) the level of IL-10 and IL-12 release in patients with severe sepsis; iii) the immuno-modulating effects of frequently used treatments in these patients with severe sepsis and in surgical patients; iv) the time course of recovery; v) if the monitoring of HLA-DR, CD54, IL-10 and IL-12 will better predict the clinical outcome than clinical parameters.- - - - - - - - - - ranking = 0.5keywords = complex (Clic here for more details about this article) |
3/19. delirium in the intensive care unit: are we helping the patient?The intensive care unit (ICU) represents a dynamic interaction between patient factors and interventional factors. The complexity of this situation can generate an impaired consciousness in the patients. The critical care provider is faced with deducing the etiology and treatment of delirium in the ICU. Many of the therapeutic agents that are used in the ICU may precipitate delirium. patients may also experience delirium as part of their underlying medical conditions. Withdrawal syndromes, delirium tremens in particular, are known to cause delirium. By a combination of appropriate selection of medications and an awareness of delirium as a side effect, the patient in the ICU may be treated in a manner to minimize the clouding of consciousness. An understanding of the proposed pathophysiology of various types of delirium will allow appropriate clinical measures to be taken.- - - - - - - - - - ranking = 0.5keywords = complex (Clic here for more details about this article) |
4/19. negotiating care: reproductive tract infections in vietnam.Through case studies of two women, this paper uses a taskonomy approach to analyze rural Vietnamese women's narratives of prevention, treatment and management of vaginal discharge to illustrate care seeking, health practice and the pragmatism of their action. The research is based upon ethnographic research undertaken by the author between 1995 and 1997 in a rural district in northern vietnam. This exploration illustrates the complexities of women's rationalities and the web of influences upon their choices-the health seeking culture as practiced. The women's narratives are also placed within the broader context of gender, power and health systems that structure their decision making. The author discusses how social and economic resource factors influence the choices women make regarding when to begin treatment for vaginal discharge and where to seek care. She concludes that women use their understanding of the relationships between health, living conditions and diseases on a day-to-day basis and that the practice of managing vaginal discharge is mediated by concepts of body, self and the body politic in vietnam.- - - - - - - - - - ranking = 0.5keywords = complex (Clic here for more details about this article) |
5/19. role of plasmapheresis in acute disseminated (postinfectious) encephalomyelitis.Acute disseminated encephalomyelitis (ADEM) is a demyelinating central nervous system disease that is associated with high morbidity and mortality. Although the recognition of ADEM may be facilitated by newer imaging techniques, the optimal treatment of this disease remains uncertain. We describe 4 patients with severe ADEM who responded to treatment that included intensive plasmapheresis. Two of the patients were in coma at the time that plasmapheresis was instituted, and all 4 patients made an excellent recovery. Immunologic studies revealed increased serum IgA levels, increased circulating immune complex levels as measured by the Raji cell assay, and decreased numbers of T and B cells prior to treatment of ADEM. These abnormalities improved following plasma exchange. plasmapheresis appears to be effective in reversing the neuropathologic process in ADEM. The role of this treatment modality in ADEM requires further evaluation in controlled clinical trials.- - - - - - - - - - ranking = 0.5keywords = complex (Clic here for more details about this article) |
6/19. movement disorders possibly induced by traditional chinese herbs.The authors describe the neurological presentation and CT/MRI findings in 4 patients exposed to overdoses of decoctions of two different Chinese herbs. Case 1, a 15-year-old boy, ingested herba serissae along with the safe-dosage salvia miltiorrhiza for treating a left renal stone. sophora subprostrata root (SSR) was primarily used for treating three other diseases: viral B hepatitis in case 2, a 9-year-old boy; infection of the throat and a low fever in case 3, a 11-year-old girl, and a minor facial infection in case 4, a 12-year-old boy. All patients showed complex neurological manifestations primarily including convulsions, mental changes and dystonia syndromes. Their CT and/or MRI revealed abnormal density lesions in the striatum and globus pallidus bilaterally. They excluded the possibility of Wilson's disease in each of the 4 patients and suggested that overdosage of SSR and herba serissae could cause intoxications of the central nervous system, particularly damage to the basal ganglia. Chemically, coumarin (case 1) and matrine and oxymatrine (cases 2-4) in the two medicinal herbs are suggested to be possibly responsible for the morbidity.- - - - - - - - - - ranking = 0.5keywords = complex (Clic here for more details about this article) |
7/19. Myelodysplastic syndrome of donor origin subsequent to successful treatment of myeloid/NK-cell precursor leukaemia with allogeneic PBSCT: two very rare conditions in one patient.We report a 36-year-old male with myeloid/natural killer (NK)-cell precursor acute leukaemia with a complex aberrant karyotype, who was treated according to an acute-myeloid-leukaemia (AML) treatment protocol (idarubicine, cytarabine, and etoposide) followed by high-dose cytarabine consolidation and achieved complete remission. He underwent allogeneic matched unrelated donor (MUD) peripheral blood stem-cell transplantation (PBSCT) and remained in remission throughout his remaining life. Seven months posttransplantation, a myelodysplastic syndrome (MDS) with (20q-) of donor origin was diagnosed causing severe thrombocytopenia and finally leading to infection and death. This patient represents one of the few cases published achieving remission for a significant period of time after being diagnosed with myeloid/NK-cell precursor acute leukaemia, a very rare malignant disease. We conclude, despite the fatal outcome due to infection, that allogeneic PBSCT is a therapeutic option for patients with this entity. In addition, the development of a myelodysplastic syndrome of donor origin is extremely rare and only very few cases are published worldwide.- - - - - - - - - - ranking = 0.5keywords = complex (Clic here for more details about this article) |
8/19. complement factor i deficiency associated with recurrent infections, vasculitis and immune complex glomerulonephritis.Here we report complement factor i deficiency in an 11-y-old girl from a consanguineous Turkish family, who presented with recurrent pyogenic infections, vasculitic eruptions and immune complex glomerulonephritis. A moderately low C3 level together with the clinical picture suggested a deficiency affecting regulation of complement activation. Analysis of haemolytic activity revealed absence of alternative pathway activity and subsequent analysis showed no detectable factor I (<2%) together with a low level of factor B and a moderately low level of factor H, indicating consumption secondary to the factor I deficiency. Factor I inhibits complement activation beyond C3 by cleavage of C3b in the presence of cofactors. complement factor i deficiency is frequently associated with recurrent pyogenic infections mainly affecting the upper and lower respiratory tract, or presenting as meningitis or septicaemia, while rheumatic disorders have not been a prominent feature. The patient's sister also suffered from recurrent pyogenic infections and had a low C3 level clearly suggesting the same deficiency.- - - - - - - - - - ranking = 2.5keywords = complex (Clic here for more details about this article) |
9/19. The perinatal autopsy: a neglected source of discovery.The perinatal autopsy is frequently viewed by pathologists as being scientifically unrewarding and contributing little to patient care. To emphasize its importance in patient management, genetic counselling and specific research, a ten-year review (1979-88) was made of the perinatal autopsy experience at Loyola University Medical Center. The 657 deaths included late fetal deaths (22%), early neonatal deaths (51%), late neonatal deaths (10%) and deaths between 29 days and one year (17%). Comparison of the principal causes of death in various groups categorized by birth weight and age revealed significant trends. There has been a steady decline in mortality from immediate complications of immaturity, while the mortality rate from long-term complications of immaturity has not increased. There were increased frequencies of congenital diaphragmatic hernia and cardiac malformations, while the frequency of renal malformations decreased; the etiological significance of these changes requires further evaluation. A correlation of clinical observations with post-mortem findings indicates that newer diagnostic procedures, such as ultrasound, echocardiography and cardiac catheterization, are of limited value for accurate diagnosis of complex anomalies, cystic renal disease and chromosomal anomalies. A substudy included cases up to 18 years of age. The frequency of childhood neoplasia was low (17 cases), and among these cases there was a predominance of haematological malignancies (11 cases). Even with these small numbers, a shift in cause of death from disseminated malignancy to overwhelming infection was apparent. This paper includes the essential elements of a protocol for perinatal autopsies, with illustrations of specific applications. The perinatal autopsy is clearly an undervalued source of information and discovery. Little or no information is available from developing countries, where autopsies could provide information on causes of paediatric mortality and permit recognition of disease patterns, which is so critical to the planning of health services.- - - - - - - - - - ranking = 0.5keywords = complex (Clic here for more details about this article) |
10/19. Alterations in the terminal complement pathway in leukopenic children with malignant diseases during episodes with evidence of infection.A prospective study comprising 23 children under treatment with cytostatic drugs for malignant diseases was undertaken to search for complement abnormalities during episodes with evidence of infection. Eleven patients developed 17 episodes with fever (temperature greater than or equal to 38 degrees C) (n = 13) and/or increased concentration greater than or equal to 10 mg/l) of c-reactive protein (CRP) (n = 16). Complement factor C9 increased significantly (greater than or equal to 150%) in 12/13 of the events with fever, in 16/16 with increased CRP, and in 1 additional event with normal temperature and CRP concentration. The terminal complement complex (TCC) increased excessively (37.2 units/ml) parallel to a fall in C9 and S-protein in a single patient with a lethal septic shock, and was slightly increased (2.9 units/ml) in a 2nd case who was efficiently treated. These were also the only 2 cases with verified bacterial infections. We conclude that C9 is a valuable supplement to CRP for detection of events with probable infection and that TCC is increased only in severe infection and may be of prognostic importance.- - - - - - - - - - ranking = 0.5keywords = complex (Clic here for more details about this article) |
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