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21.
Hyper-IgM syndrome with CHARGE association 总被引:1,自引:0,他引:1
Pilar Bahillo Teresa Cantero Pilar Solís Paz Aragón Samuel Gómez Rosario Cambronero 《Pediatric allergy and immunology》2003,14(6):487-489
A girl with coloboma of the iris, sensorineural deafness, growth delay, distinctive face, and cranial nerve dysfunction was diagnosed of CHARGE association in the first year of life. She presented with repeated otitis. At 3 yr of age, the patient suffered a septicemia ( Streptococcus pneumoniae , Corynebacterium sp.). The immunoglobulin G (IgG) and IgA serum levels were decreased, IgM increased and cellular immunity parameters were normal, supporting the diagnosis of hyper-IgM (HIM) syndrome. The sequence of CD40 ligand and cytidine deaminase genes were normal. From then on, she was receiving immunoglobulin intravenously with an excellent outcome . Here, we report the first case of CHARGE association and HIM syndrome in the same patient. Although the cause could not be identified, a non-random link is likely. 相似文献
22.
Carmen Guillén Ponce María Pilar Garrido López María José Molina Garrido Gema Muñoz Molina Alfredo Carrato 《Clinical & translational oncology》2007,9(1):53-55
Pituitary metastases of solid tumours are infrequent, specially as a first manifestation. When they happen, they are usually
due to breast or lung cancer and are asymptomatic or produce diabetes insipidus. It is very strange that they produce hormonal
deficiency.
We present a case report of a bronchogenic adenocarcinoma in a 65-year-old man which began with panhypopituitarism, diabetes
insipidus and visual alterations. Magnetic resonance imaging revealed a large sellar mass, with clivus infiltration and invading
the right cavernous sinus. The biopsy result was adenocarcinoma metastases from lung cancer. 相似文献
23.
Borras Merce; Valdivielso Jose M.; Egido Ramon; Vicente de Vera Pilar; Bordalba Josep Ramon; Fernandez Elvira 《Nephrology, dialysis, transplantation》2006,21(3):789-791
24.
Laboratory investigation: Effects of propofol on the systemic inflammatory response during aortic surgery 总被引:2,自引:0,他引:2
José M. Rodríguez-López Pilar Sánchez-Conde Francisco S. Lozano Juan L. Nicolás Francisco J. García-Criado Carlos Cascajo Clemente Muriel 《Journal canadien d'anesthésie》2006,53(7):701-710
PURPOSE: A laboratory investigation was undertaken to assess the effects of propofol on renal function, through modulation of the systemic inflammatory response, in an in vivo experimental model of aortic surgery in comparison with sevoflurane. METHODS: Twenty young male piglets were anesthetized with either propofol 4 mg.kg(-1).hr(-1) (n = 10) or sevoflurane 1.5% end-tidal concentration (n = 10). Animals were subjected to aorta-aortic bypass with suprarenal aortic clamping for 30 min. At specific intervals (basal -before the start of surgery; reperfusion 15 min after unclamping the aorta; at 24, 48 and 72 hr after surgery, and on the seventh day after surgery) the levels of the following were determined: plasma creatinine, renal myeloperoxidase, tumour necrosis factor-alpha, interleukin 1-ss, and interferon-gamma; kidney superoxide anion and its detoxifying enzyme superoxidase dismutase, kidney malondialdehyde and the activity of inducible nitric oxide synthase. Seven days after surgery, the animals were anesthetized using the described techniques, and after blood withdrawal and kidney sampling they were sacrificed. RESULTS: In comparison with sevoflurane, propofol was associated with a lower concentration of plasma creatinine (P < 0.05) together with lower concentrations of myeloperoxidase, tumour necrosis factor-alpha, interleukin 1-ss, interferon-gamma, superoxide anion and superoxidase dismutase, malondialdehyde and inducible nitric oxide synthase (P < 0.05). CONCLUSION: In an experimental model of aortic reconstructive surgery, and compared with sevoflurane, propofol anesthesia is associated with less neutrophil infiltration, lower plasma proinflammatory cytokine levels, lower production of oxygen free radicals, less lipid peroxidation, and reduced inducible nitric oxide synthase activity. These observations suggest a possible renal protective effect of propofol in this surgical setting. 相似文献
25.
Jose M. Benitez Del Castillo Ignacio Jimenez-Alfaro Pilar Ortega Alfredo Castillo David Diaz Nicolas Toledano Julian Garcia-Sanchez 《Documenta ophthalmologica. Advances in ophthalmology》1994,86(4):387-393
The possible beneficial effects on the lens and retina which Bendazac Lysine may have in the treatment of adult diabetic patients were investigated. Twenty patients, ranging in age from 54.80 ± 5.86 years old, were studied. The average duration of the diabetes was 11.32 ± 4.10 years. Thirteen patients had background retinopathy. The metabolic controls carried out during the study were satisfactory (HbA1<11%). Bendazac Lysine (500 mg three times a day) was administered for 6 months. Blood-retinal barrier permeability (VPR and VPRt) and lens transmittance (t) were evaluated prior to and 6 months after treatment by fluorophotometry. No statistically significant differences between the pre- and post-treatment values of the retina permeability were observed, however, there was a statistically significant improvement (p<0.05) (initial value: t= 0.813 ± 0.040 and final value: t=0.823 ± 0.037) in the lens transmittance. The authors conclude that Bendazac Lysine has a beneficial effect on the lens in the diabetic adult although no improvement in the permeability of the blood-retinal barrier has been observed. 相似文献
26.
Periodic lateralized epileptiform discharges: etiology, clinical aspects, seizures, and evolution in 130 patients. 总被引:4,自引:0,他引:4
Irene García-Morales M Teresa García Lucia Galán-Dávila Carlos Gómez-Escalonilla Rosana Saiz-Díaz Antonio Martínez-Salio Pilar de la Pe?a Julian A Tejerina 《Journal of clinical neurophysiology》2002,19(2):172-177
The purpose of this study was to analyze the clinical aspects in 130 patients presenting periodic lateralized epileptiform discharges (PLEDs) in their EEG and to compare these results with those found in the literature. Etiology, neurologic deficit, seizure occurrence, and evolution were studied in each patient by historical review. The recordings were obtained on 8- or 16-channel EEGs with electrode placement according to the International 10-20 System. Recordings containing PLEDs were selected. PLEDs were defined as repetitive periodic, focal, or hemispheric epileptiform discharges (spikes, spike and waves, polyspikes, sharp waves) usually recurring every 1 to 2 seconds. The statistical study was carried out via the chi(2) test using the computer program SPSS. The main etiology found in this group of patients was stroke (61 of 130 patients). Other processes found were brain infections, tumors, hematomas, and several other entities grouped together as miscellaneous (anoxic encephalopathy, subarachnoid hemorrhage, craniocerebral trauma, Creutzfeldt-Jacob disease, migraine, multiple sclerosis, and aminophylline intoxication). Half of these patients (65 of 130) developed seizures, mostly partial motor seizures. No significant relation between etiology and seizures was found (chi(2) = 2.81, P = 0.4222). Seizures recurred in 14 of 130 patients during a follow-up of 14.5 months. PLEDs were not recorded in any EEG at the time of seizure recurrence. PLEDs constitute a distinctive but uncommon EEG phenomenon of repetitive, periodic, and stereotyped lateralized complexes. In agreement with the literature, PLEDs were associated with an acute process and occurred early during the course of the illness in all patients studied and were usually associated with structural lesions, with stroke being the main etiology. Traditionally, seizures occur with PLEDs but it is also accepted that they can exist in patients who never develop epileptic activity, either clinically or electrically, as demonstrated in 50% of the patients studied. No significant association between seizures and any etiology could be found. It was not demonstrated that the occurrence of seizures may influence the outcome in any way. 相似文献
27.
A A Baschat H L Galan A Bhide C Berg M L Kush D Oepkes B Thilaganathan U Gembruch C R Harman 《Ultrasound in obstetrics & gynecology》2006,27(1):41-47
OBJECTIVE: Multi-vessel Doppler ultrasonography and biophysical profile scoring (BPS) are used in the surveillance of growth restricted fetuses (IUGR). The interpretation of both tests performed concurrently may be complex. This study examines the relationship between Doppler ultrasonography and biophysical test results in IUGR fetuses. METHODS: Three hundred and twenty-eight IUGR fetuses (abdominal circumference < 5th percentile, elevated umbilical artery (UA) pulsatility index (PI)) had concurrent surveillance with UA, middle cerebral artery (MCA) and ductus venosus (DV) Doppler ultrasonography and BPS (fetal tone, movement, breathing, maximal amniotic fluid pocket and fetal heart rate). Patients were stratified into three groups according to their Doppler examination: (1) abnormal UA alone; (2) brain sparing (MCA-PI > 2 SD below mean for gestational age); and (3) abnormal DV (PI > 2 SD above the mean for gestational age) and BPS groups: (1) normal (> 6/10); (2) equivocal (6/10); and (3) abnormal (< 6/10). Predictions of short-term perinatal outcomes by both modalities were compared for stratification. The distribution and concordance of Doppler and BPS test results were examined for the whole patient group and based on delivery prior to 32 weeks' gestation. RESULTS: Abnormal UA Doppler results alone were observed in 109 fetuses (33.2%), brain sparing in 87 (26.5%) and an abnormal DV in 132 (40.2%). The BPS was normal in 158 (48.2%), equivocal in 68 (20.7%) and abnormal in 102 (31.1%). Both testing modalities stratified patients into groups with comparable acid-base disturbance and perinatal outcome. Of the nine possible test combinations the largest subgroups were: abnormal UA alone/normal BPS (n = 69; 21%) and abnormal DV Doppler/abnormal BPS (n = 62; 18.9%). Assessment of compromise by both testing modalities was concordant in 146 (44.5%) cases. In 182 fetuses with discordant results the BPS grade was better in 115 (63.2%, P < 0.0001). Marked disagreement of test abnormality was present in 57 (17.4%) fetuses. Of these, abnormal venous Doppler in the presence of a normal BPS constituted the largest group (Chi-square P < 0.002). Stratification was not significantly different in patients delivered prior to 32 weeks' gestation. CONCLUSION: Doppler ultrasonography and BPS effectively stratify IUGR fetuses into risk categories, but Doppler and BPS results do not show a consistent relationship with each other. Since fetal deterioration appears to be independently reflected in these two testing modalities further research is warranted to investigate how they are best combined. 相似文献
28.
Jesus Galvez Lourdes Cabrera Francisco Lajarin Pilar Garcia-Pearrubia 《Journal of immunological methods》1994,170(2):197-210
New methods for simplified quantitation of effector-target conjugation have been developed. The binding unit (BU) is defined as the number of target cells required to bind a specified percentage of effector cells. The number of binding units is determined from binding isotherms in which effector conjugate frequencies are measured by holding constant the number of effector cells and by varying the number of target cells. Alternately, a binding unit can be defined as the number of effector cells required to bind a specified percentage of target cells. In this case, BU is computed from binding isotherms in which target conjugate frequencies are measured at different values of effector cells by holding constant the number of target cells. Also, the area under the curve (AUI) of these isotherms is another index that can be used as an overall measure of the binding capacity in an effector-target system. The experimental values of BU and AUI determined from effector and target isotherms agree well with theoretical predictions based on our previously developed binding model (J. Immunol. Methods (1992) 155, 133–147). The relationship between BU and AUI, and procedures to determine these parameters are shown. The value of these indices to express effector-target conjugation quantitatively has been confirmed by determining the values of BU and AUI for the NK-K562 effector-target system. 相似文献
29.
M. C. Bernal A. Leyva F. Garcia I. Galan G. Piedrola H. Heyermann M. C. Maroto 《European journal of clinical microbiology & infectious diseases》1995,14(11):954-958
In order to determine the seroprevalence of hepatitis E virus, 1,993 sera (453 from healthy pregnant women, 491 from Moroccan subjects, 492 from blood donors, 321 from children, and 236 from intravenous drug users) were studied. IgG was measured by enzyme immunoassay (EIA), and positive results were confirmed by Western blot. The EIA detected antibodies in 3.96 % of the subjects (5.6 % of the Moroccans and drug users and 1.8 % of the children). Fifty-four percent of these results were confirmed by Western blot, 11.4 % were found to be negative, and 34.2 % indeterminate. The overall prevalence after confirmation by Western blot decreased to 2.15 %. When studying the Western blot pattern of the positive samples, 95 % showed antibodies to SG-3, 65 % to 8–5, and only 9.3 % to CKS fusion protein. In the indeterminate Western blots, the results for these proteins were 96.3 %, 62.9 %, and 37 %, respectively. When the epidemiological data were analysed, no statistically significant differences between women and men or between different age groups were found. 相似文献
30.
Pilar Prieto-Alvarez Isabel Tello-Galindo Jesus Cuenca-Peña Maria Rull-Bartomeu Carmen Gomar-Sancho 《Journal canadien d'anesthésie》2002,49(1):25-31
PURPOSE: To compare two protocols of epidural administration of racemic methadone for postoperative analgesia (continuous infusion and intermittent bolus), focussing on plasma concentration, analgesic efficacy and side effects. METHODS: Ninety patients undergoing abdominal or lower-limb surgery were randomly assigned to two groups in a prospective double-blind design. The continuous infusion patients (n=60) received initial doses of 3 to 6 mg followed by 6 to 12 mg by continuous infusion over 24 hr. The bolus administration patients (n=30) received repeated boluses of 3 to 6 mg of racemic methadone every eight hours. Pain intensity was assessed on a visual analog scale. Amount of supplementary analgesia was recorded, as was the incidence of side effects. Plasma methadone concentrations were determined by high performance liquid chromatography. Treatment was continued for 72 hr. RESULTS: Pain relief was good and comparable in both groups throughout the three days of treatment. No accumulation of plasma racemic methadone was observed in either group, although the concentrations were significantly higher in the bolus group. Miosis was significantly more frequent in the bolus group. CONCLUSION: Plasma methadone concentrations were significantly lower with continuous infusion. Plasma methadone accumulation, which is considered the main disadvantage for its purported influence on the incidence of side effects, did not occur at the doses used over the three days of treatment that we report. 相似文献