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In the matter of Cabrera.
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Extended Hubbard model: A cluster effective-medium approach.
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Restriction enzyme banding and in situ nick-translation on different types of hetero- and euchromatin.
We studied the role of chromatin accessibility and methylation in the banding patterns produced by means of in situ nick-translation (NT) and restriction enzyme (RE) banding techniques. For these studies we used the X chromosomes of Microtus cabrerae because of their large segment with four different types of constitutive heterochromatin and because in these chromosomes we can also compare active and inactive euchromatin. The results demonstrate that constitutive heterochromatin in the X chromosomes of M. cabrerae is methylated at specific sequences in both active and inactive Xs. They also show that NT-based techniques are suitable for detecting weak differences in chromatin accessibility, such as differences between active and inactive euchromatin, and are able to distinguish methylation only at the accessible sites. Thus, when methylation has to be mapped in situ, additional experiments have to be performed in order to distinguish findings due to differential accessibility. RE banding seems less sensitive to slight differences in chromatin accessibility, and might thus be more suitable than in situ NT-based techniques for methylation mapping. In harmony with these results, HpaII-based RE banding is able to distinguish between active and inactive euchromatin, possibly depending on its methylation status.
An epidemic in a coronary care unit caused by Pseudomonas species.
Five patients in a coronary care unit were involved in an epidemic caused by a nonfermenting Gram-negative bacillus, presumptively identified by our laboratory as Pseudomonas cepacia. All medications administered intravenously to these patients were cultured. Because morphine was the only such medication common to the treatment of all the patients involved, a vial used in the unit at that time was cultured, as were two previously-entered vials of saline solution and several sterile vials of distilled water used in the preparation of injectable medication. The Pseudomonas cepacia organism was recovered from one of the vials of saline solution. The epidemic ended as soon as the practice of re-entering the vials of sterile saline solution was discontinued.
[Sympathetic reinnervation of the transplanted heart. Study using iodine-123 labeled meta-iodobenzylguanidine].
INTRODUCTION AND OBJECTIVES: Metaiodobenzylguanidine (MIBG) is an analogue of norepinephrine and its cardiac uptake shows sympathetic innervation. During the heart transplantation the allograft becomes completely denervated. The present study was conducted to assess the evolution of sympathetic re-innervation after transplantation, and to related re-innervation with functional status. PATIENTS AND METHODS: We studied 31 patients from 6 months to 12 years after transplantation by 123I-MIBG studies to evaluate re-innervation and by rest/exercise radionuclide ventriculography to evaluate cardiac function. Myocardial MIBG uptake was quantified by calculating a heart-to-mediastinum ratio (HMR). An HMR > 1.8 was considered normal, moderate between 1.8 and 1.6, mild between 1.6 and 1.3, and absent < 1.3. RESULTS: HMR correlated with time after transplantation (r = 0.607; p < 0.001). HMR of patients studied after 2 years of transplantation was significantly higher (1.62 +/- 0.2 vs 1.34 +/- 0.2; p < 0.05). MIBG uptake was in the anterior region in 3 patients, in the antero-lateral region in 25, and in the antero-lateral and septal regions in 3. From a functional point of view, peak filling rate at exercise was higher in patients studied 2 years after the transplantation (2.7 +/- 0.8 edv/s vs 2.16 +/- 0.5 edv/s; p = 0.02). These patients also showed a higher increase of heart rate with exercise (p < 0.005 vs p < 0.01). CONCLUSIONS: Sympathetic re-innervation increase with time after heart transplantation, and is more frequently seen 2 years after transplantation. Sympathetic re-innervation first appears in the anterior or the antero-lateral regions. A complete re-innervation of the transplanted heart does not occur 12 years after transplantation.
Short stature is related to high body fat composition despite body mass index in a Mexican population.
BACKGROUND: Mexico has a high prevalence of short stature (SS) population; thus, body mass index (BMI) criteria for diagnosis of obesity should be different from that in a tall stature (TS) population. The aim of this study was to determine whether SS at the same BMI would have greater body fat mass than those with TS. METHODS: We studied 116 individuals, 58 with SS (women < or =1.50 m and men < or =1.60 m) matched by gender, age (+/-5 years), and BMI (+/-2). Body fat was measured by bioelectrical impedance analysis. RESULTS: Paired comparisons between matched subjects showed that SS have greater body fat percentage than TS (Delta = 1.40%, p = 0.04). Subjects with BMI > or =25 and SS showed higher difference (Delta = 4.2%, p = 0.004) in body fat percentage. Subjects with SS have more body fat percentage than TS. CONCLUSIONS: This finding supports the hypothesis that in SS population BMI for diagnosis of obesity must be re-evaluated; from these results, we propose that diagnosis of obesity in SS be from BMI of 25.
[Post-radiation pneumonitis in a case of Hodgkin's lymphoma assessed with PET-FDG by residual mediastinal mass].
The PET-FDG is a useful method to assess the post-radiotherapy residual masses in supradiaphragmatic lymphoma patients. We present the case of a patient with residual mediastinic mass revealed by CT after the patient had completed treatment for Hodgkin's disease and in whom the PET study demonstrated a typical pattern of post-radiation pneumonitis. When these patients are re-assessed early after radiotherapy, the different tracer uptake patterns should be taken into account in order to identify the existence of radiotherapy sequela and avoid false positive results.
[Effects of monaural and binaural stimulation on middle latency auditory evoked responses].
INTRODUCTION: Middle latency evoked potentials include a series of evoked responses which encompass/include myogenic potentials (which translate the existence of sonomotor reflexes), and others which are clearly of neurogenic origin. The latter are the most useful from the clinical point of view. OBJECTIVE: To evaluate the effects of monoaural (MA) and binaural (BA) stimulation on middle latency auditory evoked potentials. PATIENTS AND METHODS: We studied 15 healthy people, aged between 18 and 52 years, in whom Cz recording electrodes had been fitted to both short-circuited external ears with Fpz as earth. The stimuli used were alternate clicks of condensation and rarefication of 90 dBHL, first BA and them MA. The auditory evoked response from the brain stem was also recorded. RESULTS: We found more stability of most of the components evaluated during biauricular stimulation. All subjects had Pa waves and 93% had Pb waves. Statistically significant differences were only found for the amplitude of Po and Pa (BA against RE) (Wilcoxon test, p < 0.05). CONCLUSION: The use of BA stimulation to obtain middle latency evoked potentials is more useful for study of the more rostral parts of the auditory path, since its components are more stable.
[Aortic coarctation: different anatomo-clinical forms depending on the age of presentation].
OBJECTIVE: To analyse the anatomo-clinical characteristics of the coarctation of the aorta at different ages of presentation as well as the findings and results of its surgical correction at different periods. PATIENTS AND METHODS: We retrospectively studied the clinical and angiographic data, as well as the intraoperative findings and surgical outcomes of 82 consecutive patients (54 M and 28 F) with coarctation of the aorta. Mean age was 16.2 +/- 13.7 years (1 month to 63 years). The patients were divided into three groups according to age: Group A (n = 10) under 1 year; Group B (n = 30) from 1 to 12 years and Group C (n = 42) over 12 years. RESULTS: A preductal form was found in 20.7% cases (50.0%, 30.0% and 7.1% of groups A, B, and C respectively; p = 0.003). An associated left-to-right shunt was present in 19.5% (40.0%, 16.7% and 16.7% of groups A, B and C respectively; p = NS). The first manifestation of the disease was different in groups A, B and C. Among group A patients, congestive heart failure was the most frequent presentation (70.0%). In group B, the most frequent presentation (30%) was as an incidental finding in an asymptomatic patient. Finally, systemic hypertension or its complications predominated among group C patients (38.0%). Left ventricular hypertrophy on ECG was present in 0.0%, 30.0% and 54.7% of patients in groups A, B and C (p = 0.003) respectively. Postoperative complications including death, hypertensive crisis and re-coarctation were observed in 90.0%, 33.3% and 21.4% in groups A, B and C (p = 0.01) respectively. CONCLUSIONS: Among patients with coarctation of the aorta, the age of clinical presentation allows us to define groups of patients with different anatomical characteristics, clinical course and postoperative outcome.
[Experience with Palmaz stent in pulmonary branch stenosis].
INTRODUCTION AND OBJECTIVES: Since 1989, the balloon expandable Palmaz stent (Johnson & Johnson Interventional Systems) has been used for the treatment of congenital heart disease. This study reports the results and the technique used for its implantation in native and post surgical retraction pulmonary branch stenosis. MATERIALS AND METHODS: From february 1995 to june 1996, we have performed this technique in 11 symptomatic children/adolescents with pulmonary branch stenosis, the mean age was 11 +/- 2 years. Fourteen procedures were made and 16 stents were implanted. The mean condition of the patients was: 7 with tetralogy of Fallot after a previous complete correction, 1 with Noonan syndrome and a surgically corrected atrial septal defect, 1 with pulmonary trunk aneurysm and a previous surgical correction for pulmonary valve and branch stenosis, 1 with pulmonary atresia and an intact septum who underwent a surgical valvotomy and posterior percutaneous valvuloplasty with a good ventricular development, and final was a tricuspid atresia with a previous Waterston anastomosis which produced a stenosis at the right pulmonary branch who underwent a modified Fontan operation with the result of a severe stenosis at the medial and inferior right pulmonary artery. The branch ostium was affected in five cases, and in one case with diffuse hypoplasia of the right branch, the stenosis was at both sites. The stenosis was native in nine cases and post surgery in the other five (2 Waterston, 1 Blalock-Taussig, 1 Fontan). We used the right and/or left femoral vein in all cases except two, in which we used the internal jugular vein. We followed the technique reported by the Boston-Houston experience, with an extra stiff guide and Mullins sheath towards the site of the stenosis. RESULTS: The procedure was effective in all cases except one. The mean pulmonary branch and balloon diameter was 11 +/- 3 mm and 14 +/- 2 mm, respectively, rate 1.2. The stenosis diameter rose from 4.8 +/- 1 to 11 +/- 2 mm (p < 0.001) with a percentage fall from 63 +/- 5 to 2 +/- 1% (p < 0.001). The pressure gradient fell from 30 +/- 5 to 5 +/- 1 mmHg (p < 0.001) and the right ventricle systolic pressure fell from 77 +/- 6 to 48 +/- 3 mmHg (p < 0.01). The mean followup was 10 +/- 3 months, a symptomatic and pulmonary perfusion improvement was seen. After 8 +/- 4 months, we evaluated six patients/nine stents with angiography, and we excluded thrombosis, aneurysms and occlusion of lobar or segmental branches. One case had a proximal stent re-stenosis as it did not cover the whole stenosis, so a new stent was implanted. Three patients/four stents underwent redilatation getting a slightly higher diameter than previously. COMPLICATIONS: One patient had a stent migration and he underwent surgical stent retrieval. CONCLUSIONS: Implantation of the Palmaz stent is a useful procedure for the treatment of native or post-operative pulmonary stenosis. It is possible to apply it to hypoplastic and ostial pulmonary stenosis. We confirm the effectiveness of redilatation at mid term.
[Echocardiographic follow-up of insulin-dependent diabetics].
Results of echocardiographic test made on 29 patients with Diabetes Mellitus type I, under 14 years of age, on two occasions with an average of 33 months between test are presented. Anomalies were detected in approximately 30% of patients and persisted in re-evaluations of those patients with more than three altered parameters. Decrease of septal movement, as an index of myocardial contractibility affectation, is the only parameter which increased rate with time. Authors do not find any correlation between echocardiographic anomalies and age, sex, duration of diabetes, insulin doses and glycohemoglobin values. Due to high incidence of echocardiographic anomalies detected, they recommend these test be conducted periodically on type I diabetics, even though relation between control of the illness and long-term complications still appears to be uncertain.
Transmission trials with a support system for the treatment of cardiac arrest outside hospital.
A mobile electrocardiogram (ECG) transmission system was developed which could transmit single-lead ECG data via GSM mobile telephony. Ambulance transmission trials comprised a total of 72 communications, of which 94% were successful. The system was able to redial up to a predetermined number of times until the GSM call was re-established (during the trials this value was set to five). The average number of GSM call tries was 1.3 per connection. The mean time required to establish a connection was 45 s; the minimum was 34 s, when only one attempt was needed to establish a GSM call. The average duration of ECG transmission between communication breakdowns was 5 min 12 s. When a link breakdown occurred, the user had to wait for an average of only 42 s to continue monitoring the signal.
[Lithiasis of the distal ureter: ESWL or URS].
UNLABELLED: A nephritic colic is the clinical picture that evidences the presence of ureteral stones, the natural evolution being their spontaneous passing. Stones in the distal ureter are self-eliminated in about 71-80% cases. The adoption of a "watchful wait" involves an uncertain occupational and medical evolution since, although in some cases the stones will pass with no problems, in other instances they can result in severe, life threatening situations for the patient's health (intractable pain, anuria or sepsis). When a decision is made to treat the condition, there are two choices available: "in situ" SWEL (extracorporeal lithotrity), or URS (ureterorenoscopy), long-standing conflicting techniques each with its own advantages and disadvantages, which should now be considered complementary. SWEL's major disadvantage is the number of repetitions required and the long wait, sometimes even months, until the last fragment is passed. The greater strength of URS is that it can be resolutive in just one episode (95% cases), thus avoiding the obstruction problems that can arise after SWEL. In the Lithiasis-Lithotrity Unit of FJD, SWEL is the first therapeutical option for the treatment of stones in the distal ureter. SWEL and URS are equally likely to be performed although SWEL is the initial choice for efficiency reasons that are explained. We achieve 93.6% positive results with a 1.82% re-SWEL rate (retreatment), 0.60 coefficient of efficiency (EQ) and 0.69 modified coefficient of efficiency (EQM) (Chart). No serious complications were recorded. Morbidity is variable with little clinical significance. CONCLUSION: Distal ureter lithiasis can be treated with either URS and SWEL, both considered "different and complementary". The choice in each particular case and within each hospital will depend on availability of means to perform one or the other, equipment's efficiency, skill of the urologist, patient's preference and cost of each treatment.
Comparative corneal topography and refractive variables in monozygotic and dizygotic twins.
PURPOSE: To investigate the role of heredity in determining corneal shape, axial length, and overall refractive error. METHODS: Twenty monozygotic and 19 dizygotic twin pairs, age 12 to 73 years, were enrolled in the study. Zygosity was determined by physical similarity and by responses to questions adapted from surveys. Two twin pairs were excluded because of undetermined zygosity and one pair because of keratoconus (both siblings). Refractive error was determined by an automated refractor. Manifest refraction was also recorded, as well as cycloplegic refraction in subjects under age 18 years. Corneal topography data and manual keratometer readings were also obtained. Axial lengths were determined by A-scan ultrasound. Data were analyzed by Student t tests only in the right eye. Left-eye data were comparable for all variables. RESULTS: Mean intrapair difference in refractive error (spherical equivalent) was less for monozygotic than for dizygotic twins (RE: 0.41 vs 1.53; P = .001). Mean intrapair difference in axial length was less for monozygotic twins (RE: 0.39 vs 0.76 mm; P = .031). Corneal topography data (power and meridian) in all zones (3, 5, and 7 mm) also showed smaller mean differences among monozygotic pairs than dizygotic, but the difference was statistically significant only for the 5-mm zone. In addition, most Holladay Diagnostic Summary variables that were studied did not show any statistically significant differences. CONCLUSIONS: Axial length and overall refractive error have a significant genetic basis. Corneal topography data appear to have other overriding determining factors for several of the variables studied.
Rates of reinfection with Echinococcus granulosus, Taenia hydatigena, taenia ovis and other cestodes in a rural dog population in Uruguay.
A survey was undertaken to determine both the prevalence of, and reinfection rates with Echinococcus granulosus and other cestodes in the Department of Florida, Uruguay. Baseline prevalence was determined in 303 rural dogs which then, in 4 groups, were re-examined 2, 4, 8 or 12 months later. Baseline prevalences for E. granulosus, Taenia hydatigena, Taenia ovis and Dipylidium caninum were 13.2, 13.9, 2.3 and 13.2%, respectively. The frequency distribution of E. granulosus was over-dispersed. Dogs in the population became infected with E. granulosus between 2 and 4 months after treatment (prevalences at 2, 4, 8 and 12 months were 0, 6.8, 18.6 and 27.9%, respectively). There was no indication that there was a predisposition of dogs to infection with the Odds Ratio being 1.0. Dogs were infected with T. hydatigena and D. caninum within 2 months and with T. ovis between 2 and 4 months after treatment. The implications of these different rates of reinfection in the dog population on anthelmintic control strategies against cystic echinococcosis are discussed.
Human GPR174 deficiency drives polyclonal lymphoproliferative disease via defects in T cell function.
The X-linked G-protein coupled receptor GPR174 is highly expressed in T and B lymphocytes and has immunoregulatory roles in mice, but its function in humans is unknown. We describe a cohort of six individuals who have function-disrupting variants in GPR174 and a clinical phenotype of lymphadenopathy and autoimmunity. Histological analysis of two patient lymph nodes revealed necrotizing lymphadenitis and lymphoproliferation resembling Kikuchi-Fujimoto disease. In-depth analysis of three patients and related carriers revealed overaccumulation of CD8 terminally differentiated effector memory cells re-expressing CD45RA (TEMRA). Patient cells and GPR174-deficient CD8 T cells generated from controls showed less repression of proliferation by the GPR174 ligand lysophosphatidylserine (lysoPS) and an effector-biased gene expression program. GPR174-deficient CD4 T cells were resistant to lysoPS-mediated suppression of IL2 production. In mice, chronic viral infection led to over-accumulation of GPR174-deficient effector CD8 T cells. We describe an inborn error of immunity associated with dysregulated lymphocyte responses that we propose predisposes to exaggerated lymphoproliferation and autoimmunity following viral infection.