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B*44:150 was identical to B*44:02:01:01 except at the 3′-end region of exon 3, where a B*07-specific sequence was identified. [ABSTRACT FROM AUTHOR]

Background and Objectives: celiac disease is associated with the HLA class II alleles: DQA1*05-DQB1*02 and DQB1*0302. The genetic risk for celiac disease may depend on the presence or absence of such alleles, their combination or number of copies. This study aimed to establish the differences in HLA genotypes between celiac patients diagnosed during childhood and adulthood, and between patients and healthy controls, and to determine the risk of disease in each genotypic category., Methods: we classified 350 celiac patients at time of diagnosis and 218 controls into 14 categories according to their HLA genotype, based on the presence or absence of risk alleles., Results: we found statistically significant differences between the genotype frequencies of celiac patients diagnosed as being children and adults. DQA1*05 (x 1 copy), DQB1*02 (x 1 copy), DQB1*0302 (x 0 copies) was the most frequent genotype in individuals diagnosed in childhood, whereas DQA1*05 (x 1 copy), DQB1*02 (x 2 copies), DQB1*0302 (x 0 copies) was the most frequent in adults. The risk for disease in each genotypic category in celiac children and adults turned out to be different. The presence of DQB1*0302 did not increase risk in children, but did in adults., Conclusion: in our celiac population, we found a different genetic pattern according to age of diagnosis. That could suggest that the pathogenic mechanism of the disease is not exactly the same in both age groups, which could somehow determine clinical presentation of the disease, its epidemiology, coexisting diseases, and complications.

Introduction: Stiff-person (stiff-man) syndrome is characterised by symptoms of muscular rigidity and spasms, which are generally of an axial nature. Involuntary contractions of the agonist and antagonist muscles caused by activity of the motor units during rest are the main clinical and electrophysiological marker of the disease. The nature of the syndrome is considered to be autoimmune, with positive glutamic acid decarboxylase (anti-GAD) antibodies in most patients. These antibodies exert an influence over GABAergic transmission., Case Report: A 29-year-old female who was admitted to hospital with a diagnosis of psychogenic mutism. While in hospital the patient developed a clinical picture consisting in generalised stiffness that was predominantly axial and proximal with hyperreflexia in the four limbs and strong contraction of the muscles of the abdomen. The most striking lab finding was the presence of anti-GAD, anti-parietal cells, anti-microsomal/TPO and antithyroglobulin antibodies, together with oligoclonal immunoglobulin G bands in the cerebrospinal fluid. Treatment was established with benzodiazepines, antispastic agents and corticosteroids, and the clinical symptoms progressively improved until they had partially remitted at two months. The lab findings and clinical features are compatible with stiff-person syndrome in a patient with associated psychiatric comorbidity., Conclusions: Anti-GAD antibodies are not exclusive to stiff-person syndrome and can also be found in a number of other autoimmune disorders. Other mechanisms which can also produce a dysfunction of the GABAergic system have also been suggested. The syndrome can be difficult to diagnose from the clinical point of view and it must therefore be borne in mind in patients who begin with unexplainable stiffness and spasms because it is a potentially treatable pathology.

Introduction: Understanding of celiac disease has changed with the advent of serological markers (antigliadin IgA, anti-endomysial IgA and anti-transglutaminase IgA antibodies) and with the identification of major susceptibility genes (HLA-DQA1*05-DQB1*02). Reports of the efficacy of these diagnostic tests have varied, depending on the methodology used and the population investigated., Objectives: To determine the clinical utility of genetic and serological markers in the diagnosis of celiac disease, their relationship with histological lesions and their changes during treatment, in order to establish an optimal diagnostic algorithm in our environment., Patients and Methods: We performed a retrospective study of 590 patients from the health area of Badajoz referred to the Immunology Laboratory for screening or follow-up of celiac disease. The results of intestinal histology, serological markers (antigliadin IgA, anti-endomysial IgA and anti-transglutaminase IgA antibodies), and genomic typing (HLA-DQA1*05-DQB1*02) were analyzed., Results: The sensitivity and specificity of serological tests were greater than 90 %, with a negative predictive value of 98-100 %. HLA-DQA1*05-DQB1*02 was detected in 97 % of celiac patients, with a very high negative predictive value (99 %). On biopsy, 95 % of the patients with some grade of intestinal lesion were positive for antigliadin and/or anti-endomysial antibodies., Conclusion: To avoid missed diagnoses, the diagnostic algorithm of celiac disease should include at least two serological markers (antigliadin antibodies and anti-endomysial and/or anti-transglutaminase antibodies) and IgA quantification. Genomic typing should be carried out if one or more markers are positive or if the subject belongs to any of the risk groups. The physician should decide on the advisability of intestinal biopsy on the basis of the patient's clinical and immunological history.

Objective: To evaluate the efficacy of densitometric analysis of cranial CT imaging in the measurement of areas with low cerebral blood flow and lack of hemodynamic reserve in patients undergoing carotid endarterectomy., Patients and Methods: 40 consecutive patients undergoing carotid endarterectomy have been included in the study. All of them had preoperative cranial CT, pre and postoperative basal and acetazolamide SPECT. Cranial CT imaging after digitalization and computer processing were obtained with 4 densitometric patterns: 1). normal cerebral blood perfusion; 2). ischemic or low brain blood perfusion (patron I); 3). parenchyma without cerebral hemodynamic reserve (patron nR), and 4). brain infarction., Results: 32 out of 40 (80 %) patients had abnormal densitometric patterns: 19 nR patterns (47.5 %), 11 I pattern (27.5 %) and 2 established brain infarction. The correlation between densitometric cranial TC imaging and SPECT was 92% when analyzing areas with hypoperfusion (S: 96.5 %; E: 82 %). Cranial CT detected 12/13 of patients who lacked cerebral hemodynamic reserve in the SPECT analysis (S: 74 %; E: 92 %; Vpp: 95 %)., Conclusions: There is a good correlation between analysis of densitometric cranial TC imaging and SPECT in determining low cerebral blood flow areas and lack of cerebral hemodynamic reserve. This method could help to improve carotid surgery indications in patients with carotid stenosis.

Objective: To analyze pS2 cytosolic levels in breast carcinomas and their correlation with different clinical characteristics of the patients and their tumours., Material and Methods: Cytosolic pS2 levels were measured by radioimmunometric assay in tumours from 168 breast cancer patients., Results: The pS2 values ranged from 0 to 251 ng/mg protein (mean SD: 21.8 38.1; median: 7.9 ng/mg protein). These protein levels were significantly (p < 0.05) higher in premenopausal patients (27.6 45.2) than in postmenopausal patients (19.5 33.8). Intratumour pS2 levels were also significantly (p < 0.05) correlated with histologic grade of the tumours, and were higher in well diferentiated tumours (grade I: 28.8 42.8) than in moderately differentiated tumours (grade II: 19.7 35.6) and than in poorly differentiated tumours (grade III: 18.9 37.3). Similarly, significant differences in pS2 content were found between positive estrogen receptor (ER) tumours and ER-negative tumours (29.1 46.5 vs 11.3 15.9, respectively; p<0.0001), as well as between positive progesterone receptor (PR) tumours and PR-negative tumours (29.1 49.8 vs 15.3 21.5, respectively; p < 0.05)., Conclusions: The results suggest that pS2 may be a useful prognostic marker in breast cancer, and may also be useful to identify patients who are likely to benefit from hormone therapy.

Objective: To analyze the prognostic value of the preoperative serum levels of the carcinoembryonic antigen (CEA) in primary colorectal carcinoma., Material and Methods: Preoperative serum levels of CEA were analyzed in 275 colorectal cancer patients, who were followed up for a minimum of 5 years, or until death., Results: The percentage of positivities for the preoperative serum levels of CEA (> 6 ng/ml) was positively and significantly associated with the tumoral stage (A: 10,5%; B: 38,8%; C: 32,2%; y D: 72%; p < 0,0001). In addition, the elevated serum values of the antigen were significantly associated, in the univariate analysis, with short survival in the overall group of patients (p < 0,0001). However, the multivariate analysis only showed an independent prognosis value of the CEA in the subgroup of patients with stage C tumors., Conclusions: Preoperative serum levels of CEA may be useful to predict tumoral extension, and also for the prognosis regarding stage C colorectal cancer patients.

The aim of this work is studying the behaviour of EGFR in benign breast pathologies and correlating it to its expression in CDI with hormonal dependency or independency using a radioligand technique. The EGFR expression was higher in FAD rather than in MFQ (mean +/- S.D.: 13.7 +/- 13.5; range: 1.0-55.3; median: 10.0 fmol/mg prot vs mean +/- S.D.: 4.0 +/- 3.5; range:1.0-11.4; median: 2.2 fmol/mg prot), with a result of a positive correlation in the first ones with RP (r = 0.4557) but not with RE. FAD present similar EGFR concentrations to those in CDI-hormonal independents (mean +/- S.D.: 10.7 +/- 12.6; range: 1.0-60.2; median: 6.75 fmol/mg prot), even though the way they are correlated with the content in RP leads us to the conclusion that they are both involved in the genesis and controled development of themselves. On the other hand, MFQ have got similar contents in EGFR to those of CDI hormono-dependents (mean +/- S.D.: 6.98 +/- 15.72; range: 1.0-118; median: 2.55 fmol/mg prot); this fact proves that the development of this pathology does not only depend on the growth factors but also on the hormonal environment which influences it.

Introduction: The syndrome, or disease, or Sturge Weber (SSW) is a neuro-ectodermic disorder of unknown incidence, sporadic presentation and specific sex incidence. It is characterized by the presence of a flat, facial angioma which affects at least the first branch of the trigeminal nerve, association with ipsilateral leptomeningeal vascular anomalies, one or more symptoms (epilepsy, hemiparesia, hemiplegia or mental retardation) and ipsilateral vascular lesions of the choroid which lead to glaucoma. As a consequence of lepto-meningeal involvement, homolateral cerebral hemi-atrophy develops together with cortico-subcortical calcifications with a characteristic "railway line" appearance., Clinical Case: We present the case of a six month old girl with a flat port wine angioma on the left half of her face, including three branches of the trigeminal nerve and the left half of her body. She had partial motor crises of the right leg. On the cranial CT there were left periventricular calcifications and calcifications of the choroid plexus. Gadolinium-MR showed signs of left cerebral hemi-atrophy, which was confirmed on the cerebral SPECT (left temporal hypoperfusion)., Conclusion: This case is interesting on account of the presence of atypical calcifications, both with regard to the sites and age of presentation. We emphasize the need for cranial CT to rule out the presence of calcifications, (as in this case) not seen on Xray of the skull or on MR. We favour the use of cerebral SPECT as a complementary diagnostic technique.

We made a prospective study of the intercritical changes in cerebral perfusion using SPECT with 99mTc-HMPAO in 33 adult patients with focal epilepsy which was resistant to polypharmacy and showed normal MR, to evaluate the relationship between these changes and the clinico-electrical focus (FCE) and the clinical features of epilepsy. All SPECT studies (100%) showed one or more areas of hypoperfusion. There was good topographical relationship between the perfusion defects and FCE which coincided exactly in 15 patients (45.4%); was acceptable with FCE identification but with associated defects in 12 (36.4%) and poor, bearing no relation to each other in 6 (18.2%). There was no correlation between a good, acceptable or poor relationship of SPECT-FCE and the age of the patient, time-course of the illness, number of crises, number of drugs or type of treatment given. There were more cases showing poor relationship amongst the pure temporal lobe foci (p < 0.05), but when these were considered together with the fronto-temporal cases, no difference was seen when compared with the extra-temporal cases. There was a tendency to greater secondary generalization of the crises in the group showing a good relationship. There were more cases of a clinical history of previous CNS diffuse lesions (anoxia, trauma or meningitis) amongst those with a poor relationship (83%) but not amongst those with a good relationship (20%, p < 0.05), or an acceptable relationship (25%, p < 0.05). This would seem to suggest that the anomalies found were more a result of the cause of the epilepsy than of the repetition of crises. SPECT should be included in the diagnostic algorithms of focal epilepsy with normal.

Periodic lateralized epileptiform discharges (PLEDs) in an EEG usually indicate the presence of an underlying structural lesion (of vascular origin in most cases). PLEDs are also sometimes observed in certain types of infections (mainly viral), in which they may even constitute a characteristic finding useful for diagnostic purposes. In recent years cases have been reported in which PLEDs are linked to recurring confusional states that do not fit in with established classifications and that may be epileptic in nature. We discuss the cases of 2 patients who were repeatedly admitted to our hospital in confusional states, in whom PLEDs were observed in EEG readings. Clinical evolution in both cases paralleled EEG alterations. We were able to perform both critical and intercritical single proton emission tomography on 1 patient, finding, respectively, hyper- and hypoabsorption foci. Symptoms resolved with antiepileptic treatment.

A study was made of the action of different concentrations of metronidazole of the viability of Escherichia coli under aerobic and anaerobic conditions. The viability of E. coli was reduced by 60 to 99% after 24 hours of anaerobic incubation, according to the concentration of metronidazole tested. In addition, there were significant morphological changes in the bacteria. Exposure of antibiotic-induced filaments of E. coli LP 136 to phagocytosis caused the cfu/ml value to drop by 60% after 120 minutes. Under identical conditions, using the mutant strain E. coli RYC 819, which did not become filamented by metronidazole although it did present similar ultrastructural changes, this reduction reached 83%. These results may explain the therapeutic success of metronidazole in polymicrobial infections.

An in vitro study was carried out to determine the IgM response to staphylococcal antigens (Staphylococcus aureus, serotype 3, ATCC 12600), at different stages of the growth curve. This was in order to observe the number of inhibited haemolytic plaques when immunosera obtained from blood-letting in rabbits previously immunized with antigenic components were used.