Predictive factors of the contracture test for diagnosing malignant hyperthermia in a Brazilian population sample: a retrospective observational study

Abstract Introduction Malignant Hyperthermia (MH) is a pharmacogenetic, hereditary and autosomal dominant syndrome triggered by halogenates/succinylcholine. The In Vitro Contracture Test (IVCT) is the gold standard diagnostic test for MH, and it evaluates abnormal skeletal muscle reactions of susceptible individuals (earlier/greater contracture) when exposed to caffeine/halothane. MH susceptibility episodes and IVCT seem to be related to individual features. Objective To assess variables that correlate with IVCT in Brazilian patients referred for MH investigation due to a history of personal/family MH. Methods We examined IVCTs of 80 patients investigated for MH between 2004‒2019. We recorded clinical data (age, sex, presence of muscle weakness or myopathy with muscle biopsy showing cores, genetic evaluation, IVCT result) and IVCT features (initial and final maximum contraction, caffeine/halothane concentration triggering contracture of 0.2g, contracture at caffeine concentration of 2 and 32 mmoL and at 2% halothane, and contraction after 100 Hz stimulation). Results Mean age of the sample was 35±13.3 years, and most of the subjects were female (n=43 or 54%) and MH susceptible (60%). Of the 20 subjects undergoing genetic investigation, 65% showed variants in RYR1/CACNA1S genes. We found no difference between the positive and negative IVCT groups regarding age, sex, number of probands, presence of muscle weakness or myopathy with muscle biopsy showing cores. Regression analysis revealed that the best predictors of positive IVCT were male sex (+12%), absence of muscle weakness (+20%), and personal MH background (+17%). Conclusions Positive IVCT results have been correlated to male probands, in accordance with early publications. Furthermore, normal muscle strength has been confirmed as a significant predictor of positive IVCT while investigating suspected MH cases.

Fatigue, depression, and physical activity in patients with malignant hyperthermia: a cross-sectional observational study

Abstract Background Malignant Hyperthermia (MH) is a pharmacogenetic disorder triggered by halogenated anesthesia agents/succinylcholine and characterized by hypermetabolism crisis during anesthesia, but also by day-to-day symptoms, such as exercise intolerance, that may alert the health professional. Objective The study aimed to analyze the incidence of fatigue in MH susceptible patients and the variables that can impact perception of fatigue, such as the level of routine physical activity and depression. Methods A cross-sectional observational study was carried out with three groups - 22 patients susceptible to MH (positive in vitro muscle contracture test), 13 non-susceptible to MH (negative in vitro muscle contracture test) and 22 controls (no history of MH). Groups were assessed by a demographic/clinical questionnaire, a fatigue severity scale (intensity, specific situations, psychological consequences, rest/sleep response), and the Beck depression scale. Subgroups were re-assessed with the Baecke habitual physical exercise questionnaire (occupational physical activity, leisure physical exercise, leisure/locomotion physical activity). Results There were no significant differences among the three groups regarding fatigue intensity, fatigue related to specific situations, psychological consequences of fatigue, fatigue response to resting/sleeping, depression, number of active/sedentary participants, and the mean time and characteristics of habitual physical activity. Nevertheless, unlike the control sub-group, the physically active MH-susceptible subgroup had a higher fatigue response to resting/sleeping than the sedentary MH susceptible subgroup (respectively, 5.9 ± 1.9 vs. 3.9 ± 2, t-test unpaired, p< 0.05). Conclusion We did not detect subjective fatigue in MH susceptible patients, although we reported protracted recovery after physical activity, which may alert us to further investigation requirements.

Predictive factors of the contracture test for diagnosing malignant hyperthermia in a Brazilian population sample: a retrospective observational study.

INTRODUCTION: Malignant Hyperthermia (MH) is a pharmacogenetic, hereditary and autosomal dominant syndrome triggered by halogenates/succinylcholine. The In Vitro Contracture Test (IVCT) is the gold standard diagnostic test for MH, and it evaluates abnormal skeletal muscle reactions of susceptible individuals (earlier/greater contracture) when exposed to caffeine/halothane. MH susceptibility episodes and IVCT seem to be related to individual features. OBJECTIVE: To assess variables that correlate with IVCT in Brazilian patients referred for MH investigation due to a history of personal/family MH. METHODS: We examined IVCTs of 80 patients investigated for MH between 2004‒2019. We recorded clinical data (age, sex, presence of muscle weakness or myopathy with muscle biopsy showing cores, genetic evaluation, IVCT result) and IVCT features (initial and final maximum contraction, caffeine/halothane concentration triggering contracture of 0.2g, contracture at caffeine concentration of 2 and 32 mmoL and at 2% halothane, and contraction after 100 Hz stimulation). RESULTS: Mean age of the sample was 35±13.3 years, and most of the subjects were female (n=43 or 54%) and MH susceptible (60%). Of the 20 subjects undergoing genetic investigation, 65% showed variants in RYR1/CACNA1S genes. We found no difference between the positive and negative IVCT groups regarding age, sex, number of probands, presence of muscle weakness or myopathy with muscle biopsy showing cores. Regression analysis revealed that the best predictors of positive IVCT were male sex (+12%), absence of muscle weakness (+20%), and personal MH background (+17%). CONCLUSIONS: Positive IVCT results have been correlated to male probands, in accordance with early publications. Furthermore, normal muscle strength has been confirmed as a significant predictor of positive IVCT while investigating suspected MH cases.

Fatigue, depression, and physical activity in patients with malignant hyperthermia: a cross-sectional observational study.

BACKGROUND: Malignant Hyperthermia (MH) is a pharmacogenetic disorder triggered by halogenated anesthesia agents/succinylcholine and characterized by hypermetabolism crisis during anesthesia, but also by day-to-day symptoms, such as exercise intolerance, that may alert the health professional. OBJECTIVE: The study aimed to analyze the incidence of fatigue in MH susceptible patients and the variables that can impact perception of fatigue, such as the level of routine physical activity and depression. METHODS: A cross-sectional observational study was carried out with three groups ... 22 patients susceptible to MH (positive in vitro muscle contracture test), 13 non-susceptible to MH (negative in vitro muscle contracture test) and 22 controls (no history of MH). Groups were assessed by a demographic/clinical questionnaire, a fatigue severity scale (intensity, specific situations, psychological consequences, rest/sleep response), and the Beck depression scale. Subgroups were re-assessed with the Baecke habitual physical exercise questionnaire (occupational physical activity, leisure physical exercise, leisure/locomotion physical activity). RESULTS: There were no significant differences among the three groups regarding fatigue intensity, fatigue related to specific situations, psychological consequences of fatigue, fatigue response to resting/sleeping, depression, number of active/sedentary participants, and the mean time and characteristics of habitual physical activity. Nevertheless, unlike the control sub-group, the physically active MH-susceptible subgroup had a higher fatigue response to resting/sleeping than the sedentary MH susceptible subgroup (respectively, 5.9.ß...ß1.9 vs. 3.9.ß...ß2, t-test unpaired, p.ß<.ß0.05). CONCLUSION: We did not detect subjective fatigue in MH susceptible patients, although we reported protracted recovery after physical activity, which may alert us to further investigation requirements.

Are the Fitzpatrick Skin Phototypes Valid for Cancer Risk Assessment in a Racially and Ethnically Diverse Sample of Women?

The Fitzpatrick Skin Phototypes (FSP) were developed to classify skin color and response to ultraviolet radiation. FSP are used clinically to assess risk for sunburn and skin cancer. Our aim was to determine the criterion-related validity of self-reported FSP when compared with skin color and sunburn history, controlling for age, race/ethnicity, and seasonality/geography. We performed a secondary analysis of data (N=466) from an observational study. The racial/ethnic composition of the sample was 45% White/White Hispanic (WWH), 40% Black/Black Hispanic (BBH), and 15% Other Identities. Outcome measures were self-reported FSP and sunburn history, as well as physiological measures of skin color (L* lightness/darkness, a* redness/greenness, b* yellowness/blueness). Correlation between FSP and L* was -.77 (95% CI -.81, -.73; P<.001). Although 60% of the variance in FSP was accounted for by L* values for the entire sample, only 5% of the variance was accounted for among BBH participants (r=-.23), and up to 30% for WWH/Other Identity participants (r=-.48 and -.52). Multiple regression analysis indicated L* and b* values, sunburn history, and race/ethnicity, but not geography/seasonality or a* values significantly and collectively accounted for 72% of the variance in FSP. While the criterion validity of FSP was established by the strong relationship between L* values and FSP for the entire sample, when examined at the level of individual racial/ethnic subgroups, criterion validity of FSP was not demonstrated. When self-reported FSP are used for clinical skin assessment and sun cancer screening, they provide a restricted range of options for people with darker skin that does not capture variations in their skin color. Inaccuracy of clinical data may lead to unequal treatment or inadequate cancer risk assessment.

Susceptibilidad antifúngica de aislados vaginales de Candida spp / Antifungal susceptibility of Candida spp. vaginal isolates

Introducción: la vulvovaginitis constituye una de las principales afecciones ginecológicas, y su causa más frecuente es la candidiasis. Candida albicans se considera el agente etiológico más importante de esta entidad; sin embargo, estudios recientes revelan un incremento en la incidencia de otras especies del género. Algunas de estas tienen la particularidad de presentar resistencia a los tratamientos usuales con antimicóticos. Objetivo: evaluar la susceptibilidad antifúngica de aislados vaginales de pacientes cubanas con sospecha de candidiasis vulvovaginal que se obtuvieron en el 2015. Métodos: a 28 aislados pertenecientes al género Candida, se les realizó las pruebas de susceptibilidad in vitro con la galería ATBTM Fungus 3 frente a diferentes antifúngicos (5-fluorocitosina, anfotericina B, fluconazol, itraconazol y voriconazol). Resultados: todos los aislados fueron sensibles a la anfotericina B y uno de C. albicans se informó resistente a los azoles estudiados. Todas las especies diferentes de C. albicans fueron susceptibles al voriconazol (CMI≤ 1 mg/L). Conclusiones: el estudio de patrones de susceptibilidad en aislados de Candida provenientes de mujeres con vulvovaginitis permite profundizar en cómo abordar la terapéutica de esta afección; el fluconazol resultó el tratamiento de elección. Los resultados alertan sobre la emergencia de C. glabrata, C. krusei, C. parapsilosis, C. tropicalis, C. inconspicua y C. lusitaniae como agentes causales de la candidiasis vulvovaginal(AU)

Introduction: vulvovaginitis is one of the main gynecological diseases frequently caused by candidiasis. Candida albicans is considered as the most important etiological agent for the disease; however, recent students have revealed an increased incidence of other species of the genus. Some of them may show particular resistence to usual antimycotic treatments. Objective: to evaluate the antifungal susceptibility of vaginal isolates from Cuban female patients suspected of vulvovaginal candidiasis in 2015. Methods: twenty eight Candida genus isolates underwent in vitro susceptibility tests with ATBTM Fungus 3 using several antifungal agents (5 fluorocytosine, anphotericin B, fluconazole, itraconazole and vorixonazole). Results: all isolates were susceptible to B anphotericin and one C. albicans isolate was reported as resistant to the studied azoles. All the species other thanC. albicans were susceptible to voriconazole (CMI≤ 1mg/L). Conclusions: the study of susceptibility patterns in Candida isolates from women with vulvovaginitis allow delving into the different ways of approaching the therapeutics of this disease; fluconazole was the treatment of choice. The results show emergence of C. glabrata,C. krusei, C. parapsilosis, C. tropicalis, C. inconspicua and C. lusitaniae as causative agents of vulvovaginal candidiasis(AU)

Evaluation of different models to segregate Pelibuey and Katahdin ewes into resistant or susceptible to gastrointestinal nematodes.

This study evaluated four models based on the number of eggs per gram of faeces (EPG) to segregate Pelibuey or Katahdin ewes during the lactation period into resistant or susceptible to gastrointestinal nematodes (GIN) in tropical Mexico. Nine hundred and thirty EPG counts of Pelibuey ewes and 710 of Katahdin ewes were obtained during 10 weeks of lactation. Ewes were segregated into resistant, intermediate and susceptible, using their individual EPG every week. Then, data of every ewe was used to provide a reference classification, which included all the EPG values of each animal. Then, four models were evaluated against such reference. Model 1 was based on the 10-week mean EPG count ± 2 SE. Models 2, 3 and 4 were based on the mean EPG count of 10, 5 and 2 weeks of lactation. The cutoff points for the segregation of ewe in those three models were the quartiles ≤Q1 (low elimination) and ≥Q3 (high elimination). In all the models evaluated, the ewes classified as resistant had lower EPG than intermediates and susceptible (P < 0.001) while ewes classified as susceptible had higher EPG than intermediate and resistant (P < 0.001). According to J Youden test, models presented concordance with the reference group (>70 %). Model 3 tended to show higher sensitivity and specificity with the reference data, but no difference was found with other models. The present study showed that the phenotypic marker EPG might serve to identify and segregate populations of adult ewes during the lactation period. All models used served to segregate Pelibuey and Katahdin ewes into resistant, intermediate and susceptible. The model 3 (mean of 5 weeks) could be used because it required less sampling effort without losing sensitivity or specificity in the segregation of animals. However, model 2 (mean of 2 weeks) was less labour-intensive.

FAMACHA(©) scores history of sheep characterized as resistant/resilient or susceptible to H. contortus in artificial infection challenge.

With the aim of validating the FAMACHA(©) as a method for phenotypic selection of sheep resistant/resilient to gastrointestinal nematodes, 27 Suffolk ewes with known FAMACHA(©) score histories were experimentally infected with 25,000 larvae of Haemonchus contortus. From the day of infection (day 0) to 60 days post-infection, at intervals of 7-15 days, ewes were evaluated for packed cell volume (PCV) and fecal egg counts (FEC). A statistically significant increase (p<0.05) in FEC occurred between day 0 and day 60. PCV values showed a decrease (p<0.05) starting from day 21, compared to day 0. Based on the changes in FEC and PCV values from day 0 to day 60, 15 ewes (55.56%) were classified as susceptible (S) and 12 ewes (44.44%) as resistant/resilient (RR). A comparison of the average FEC after infection between susceptible (4487.6 eggs per gram-epg) and resistant/resilient (1317.9epg) ewes showed a significant difference (p<0.05) between the two groups. The difference in average PCV values after infection (24.8% and 30.3% for S and RR, respectively) was also significant (p<0.05). Data from 980 previous evaluations of FAMACHA(©) scores from the 27 ewes showed that 58.33% of the ewes classified as RR and 46.67% of the S group had a history of only F1 and F2 scores. In the RR group, only one animal (8.33%) had an F4 score, occurring one time out of the 61 evaluations of this ewe. In contrast, 40.0% of S group ewes had F4 and/or F5 scores. During the period of FAMACHA(©) score history that was evaluated, 69.56% of the total number of anthelmintic treatments in the flock were administered to ewes from group S. Since ewes with F4 and/or F5 scores during the FAMACHA(©) score time period were classified as susceptible during the experimental infection (with the exception of one ewe), we conclude that the FAMACHA(©) score history is a useful tool for the selection of ewes that are resistant/resilient, as well as for the identification of susceptible animals that should be culled.

Influência do tratamento com benzonidazol na resposta imunológica de camundongos infectados com cepas do trypanosoma cruzi de diferentes biodemas / Influence of treatment with benznidazole in the immune response of mice infected with Trypanosoma cruzi strains of different biodemes

A infecção pelo Trypanosoma cruzi determina uma resposta imunológica inata do hospedeiro vertebrado, decorrente da multiplicação parasitaria em macrófagos e a produção de Interferon gama (IFNy) pelas células T ativadas, além de estimulação policlonal de células do baço, com imunossupressão. Por outro lado tem sido demonstrado que o tratamento com quimioterápico Benzonidazol em camundongos infectados, além de determinar uma destruição dos parasitos, tem também uma ação sobre o sistema imunológico em camundongos infectados com cepas do T. cruzi com diferentes graus de suscetibilidade ao Benzonidazol, como a cepa Y (suscetível ao quimioterápico) e a cepa Colombiana (resistente). No presente estudo procura-se investigar a influência do tratamento com o Benzonidazol sobre a resposta imunológica em camundongos infectados com cepa suscetível (Cepa Y) ou resistente (Colombiana). Foram utilizados 320 camundongos, subdivididos em grupos experimentais: Infectados tratados cepa Y (YT) e não tratados (Y-NT); Colombiana tratados (COL-T) e não tratados (COL-NT), Tratados não infectados (TNI) e Controles sem tratamento (CI). O inóculo foi de 1,0 x 104 por via intraperitoneal. O tratamento foi iniciado no pico parasitêmico de cada cepa, sendo no 7º dia após a infecção nos animais infectados pela cepa Y e, nos tratados e não infectados, no 18º dia de infecção na cepa Colombiana. A quimioterapia foi realizada em 60 doses (100mg/kg/dia de Benzonidazol-Benz). Os camundongos sacrificados na fase aguda e na fase crônica em todos os grupos tiveram as secções de coração e músculo esquelético coletadas, fixadas e processadas para o estudo histopatológico em secções coradas pela Hematoxilina & Eosina e Picro-Sirius. Investigou-se a resposta humoral pela sorologia (Imunofluorescência indireta) e pela reação de Elisa. A resposta celular pela proliferação celular do baço, e pela avaliação quantitativa das subpopulações celulares no baço de CD4+, CD8+...

Infection with T. cruzi determines an immunological response in the vertebrate host, wit h parasites multiplication in macrophages, with production of TNFα by these cells an IFNγ, by stimulated T. cells: a polyclonal multiplication of spleen cells is present, with immunossuppression. Treatment of infected mice with BENZ showed that this chemotherapy determines parasitic destruction and also stimulates the immunological system in mice infected either with the Y or the Colombian strain which differs in the susceptibility to chemotherapy with BENZ. In the present study we intend to investigate the influence of treatment with BENZ on the immunological response in mice infected either with the Y strain (susceptible) or the Colombian strain (resistant). This study was performed by comparing the results obtained with the groups of mice not infected and treated, and infected controls, not treated. Material and methods : Number of animals: 320, sub-divided in the experimental groups:Ystrain infected and treated with BENZ(YT) or not-treated (YNT); Colombian treated (COL-T) and not-treated (COL-NT); treated not infected (TNI); Control not treated (COL-NT). Inoculum : 1x104 trypomastigotes, (blood forms) injected intraperitoneally. Treatment was initiated in the peak of parasitemia for each strain:7th day for the Y strain and in the 18th day in the infection with the Colombian strain. Chemotherapy was performed in 60 doses (100mg x kg x day) of BENZ. Mice were killed in the acute and chronic phases post infection; sections of the heart and skeletal muscles were collected, fixed and processed for histopathology, in sections stained with Hematoxylin and Eosin, and with Picro-Sirius staining, for collagen. The humoral response was evaluated by serological reactium of indirect immununofluorescence and ELISA reaction. Celular responses were evaluated by celular proliferation in the spleen of CD4+, CD8+...

Assessing socioeconomic vulnerability to dengue fever in Cali, Colombia: statistical vs expert-based modeling.

BACKGROUND: As a result of changes in climatic conditions and greater resistance to insecticides, many regions across the globe, including Colombia, have been facing a resurgence of vector-borne diseases, and dengue fever in particular. Timely information on both (1) the spatial distribution of the disease, and (2) prevailing vulnerabilities of the population are needed to adequately plan targeted preventive intervention. We propose a methodology for the spatial assessment of current socioeconomic vulnerabilities to dengue fever in Cali, a tropical urban environment of Colombia. METHODS: Based on a set of socioeconomic and demographic indicators derived from census data and ancillary geospatial datasets, we develop a spatial approach for both expert-based and purely statistical-based modeling of current vulnerability levels across 340 neighborhoods of the city using a Geographic Information System (GIS). The results of both approaches are comparatively evaluated by means of spatial statistics. A web-based approach is proposed to facilitate the visualization and the dissemination of the output vulnerability index to the community. RESULTS: The statistical and the expert-based modeling approach exhibit a high concordance, globally, and spatially. The expert-based approach indicates a slightly higher vulnerability mean (0.53) and vulnerability median (0.56) across all neighborhoods, compared to the purely statistical approach (mean = 0.48; median = 0.49). Both approaches reveal that high values of vulnerability tend to cluster in the eastern, north-eastern, and western part of the city. These are poor neighborhoods with high percentages of young (i.e., < 15 years) and illiterate residents, as well as a high proportion of individuals being either unemployed or doing housework. CONCLUSIONS: Both modeling approaches reveal similar outputs, indicating that in the absence of local expertise, statistical approaches could be used, with caution. By decomposing identified vulnerability "hotspots" into their underlying factors, our approach provides valuable information on both (1) the location of neighborhoods, and (2) vulnerability factors that should be given priority in the context of targeted intervention strategies. The results support decision makers to allocate resources in a manner that may reduce existing susceptibilities and strengthen resilience, and thus help to reduce the burden of vector-borne diseases.

Susceptibility variation of Malassezia pachydermatis to antifungal agents according to isolate source

Malassezia pachydermatisis associated with dermatomycoses and otomycosis in dogs and cats. This study compared the susceptibility of M. pachydermatis isolates from sick (G1) and healthy (G2) animals to azole and polyene antifungals using the M27-A3 protocol. Isolates from G1 animals were less sensitive to amphotericin B, nystatin, fluconazole, clotrimazole and miconazole.

Mannose-binding lectin deficiency in a child with recurrent infections.

We describe an 11 month old girl with mannose-binding lectin deficiency who presented with recurrent infections. Her mother and brother also were affected. Mannose-binding deficiency is common, and we suggest that testing for it should be included in the evaluation of children with increased susceptibility to infection.

Obsessive-compulsive spectrum disorders in rheumatic fever with and without Sydenham's chorea.

BACKGROUND: Recent findings suggest that acute-phase rheumatic fever (RF) patients present with higher frequencies of obsessive-compulsive disorder (OCD) and tic disorders. Until now, there have been no such studies in RF in non-acute phases. OBJECTIVE: To verify whether patients with a history of RF with or without Sydenham's chorea (SC) present with higher rates of OCD, tic disorders, and other obsessive-compulsive (OC) spectrum disorders (such as body dysmorphic disorder [BDD]) than controls. METHOD: Between February 1999 and December 2002, 59 consecutive outpatients with non-acute RF (28 with and 31 without SC) from an RF clinic and 39 controls from an orthopedics clinic were blindly assessed for OC spectrum disorders using structured interviews to assign DSM-IV diagnosis. Data were analyzed with Fisher exact and chi(2) tests to compare frequencies of disorders, and Kaplan-Meier survival analyses were used to obtain age-corrected rates. RESULTS: The age-corrected rates of tic disorders were higher in patients with RF without SC (N = 3; 14.39%) (p =.003) when compared with controls. Age-corrected rates for OC spectrum disorders (OCD, tic disorders, and BDD) combined were higher both in RF without SC (N = 4; 20.65%) and RF with SC (N = 5; 19.55%) groups than in controls (N = 1; 2.56%) (p =.048). CONCLUSIONS: RF, even in the non-acute phase, may increase the risk for some OC spectrum disorders, such as OCD, tic disorders, and BDD. These data, although preliminary, reinforce the idea that OC spectrum disorders may share common underlying pathophysiologic mechanisms and vulnerability factors with RF or that RF could trigger central nervous system late manifestations such as OC spectrum disorders.

Microbiology of choledochal bile in patients with choledocholithiasis admitted to a tertiary hospital.

AIM: The present study was designed to investigate the microbiology of choledochal bile of patients with cholangitis and choledocholithiasis. METHODS: We identified and determined the antimicrobial susceptibility of bacteria isolated in the bile of patients with cholangitis and choledocholithiasis diagnosed by endoscopic retrograde cholangiopancreatography (ERCP). RESULTS: Nineteen (82.6%) of 23 patients with choledocholithiasis had positive bile cultures. A single agent was detected in 11 patients (57.9%), while a mixed growth, with pathogens ranging from two to three species, were seen in eight patients (42.1%). Patients with clinical manifestations of cholangitis had significantly higher counts of colonies per mL of bile (> 105 cfu/mL). The predominant Gram-negative aerobic bacteria isolated were Escherichia coli (9, 31.0%), Klebsiella pneumoniae (5, 17.2%), Enterobacter cloacae (2, 6.9%), Pantoea agglomerans (1, 3.4%), and Pseudomonas aeruginosa (1, 3.4%). The predominant Gram-positive bacteria were Enterococcus faecalis (5, 17.2%) and Streptococcus sp. (5, 17.2%). Bacteroides fragilis was isolated in one patient with mixed growth. All Gram-positive bacteria isolated in bile were sensitive to ampicillin, and all Gram-negative bacteria isolated were sensitive to gentamicin with a minimum inhibitory concentration (CIM90) ranging from 0.5 to 1.0- micro g/mL. Gram-negative bacteria were also sensitive to imipenem, fluorquinolones, second and third generation cephalosporins. Although all five isolates of E. faecalis were sensitive to ampicillin, two of five (40%) E. faecalis isolates demonstrated high levels of resistance to gentamicin. CONCLUSION: E. coli, K. pneumoniae, E. faecalis and Streptoccocus sp. were the most common bacteria isolated in the bile of patients with cholangitis and choledocholithiasis, which were sensitive to a simple therapeutic regimen, such as the combination of ampicilin and gentamicin.

[Malignant hyperthermia susceptibility in 3 patients with malignant neuroleptic syndrome]. / Susceptibilidade à hipertermia maligna em três pacientes com síndrome maligna por neurolépticos.

Hyperthermia, skeletal muscle rigidity, rhabdomyolysis, acidosis and multiple system insufficiency characterize malignant hyperthermia. Anaesthetic malignant hyperthermia follows halogenated volatile agents and/or depolarizing muscle relaxants utilization. Diagnosis is based on in vitro muscle contracture in response to halothane and/or caffeine exposure. Neuroleptic malignant syndrome affects patients taking neuroleptic drugs; clinical findings include hyperthermia, extrapyramidal rigidity, acidosis, neurovegetative instability and neurological signs. We report three neuroleptic malignant syndrome patients with positive muscle contracture tests which shows that muscle from neuroleptic malignant syndrome patients may in some instances show alterations similar to those of anaesthetic malignant hyperthermia.

Biomarcadores de susceptibilidad a metales con énfasis en salud humana / Susceptibility biomarkers of metals: emphasis in human health

Los biomarcadores son variables cuantificables que permiten determinar la exposición, el efecto y/o la susceptibilidad a un tóxico. La mayoría de los biomarcadores estudiados son de exposición y efecto. Mediante los biomarcadores de susceptibilidad pueden evaluarse las interacciones entre ciertos factores genéticos (p. ej. polimorfismos enzimáticos) y externos (p. ej. exposición simultánea a otros agentes, estatus nutricional, etc.). Los metales han ido adquiriendo un creciente interés en relación con la salud ambiental y humana debido a su alta toxicidad y los biomarcadores pueden ser útiles en el desarrollo de estrategias de prevención y diagnóstico temprano de sus eventuales efectos adversos. En el presente trabajo se detallan los efectos de la interacción sinérgica y antagonista de metales, valencia del metal, metalotioneínas, glutation-S-transferasas, enfermedades crónicas, nicotina, edad, sexo, etc., en relación con la susceptibilidad a la toxicidad de metales. Por ej., una deficiencia en O1-antitripsina (AAT), un biomarcador de utilidad para detectar individuos hipersensibles a sustancias irritantes del sistema respiratorio (p. ej. Cr, Mn, Pb, Be, etc.) y con elevado riesgo de sufrir de enfisema pulmonar, permite anticipar los riesgos ocupacionales que podrían sufrir individuos con estas características. Los biomarcadores de sustancias potencilamente tóxicas podrían ser de gran utilidad para realizar las reglamentaciones sobre bases científicas, vinculadas con los niveles máximos admisibles de las sustancias en el ambiente (AU)

Genotipificación de mycobacterium tuberculosis y susceptibilidad a drogas / Genetic characterization of mycobacterium tuberculosis and susceptibility to drugs

Conocer la epidemiología de la tuberculosis y transmisión de cepas resistentes en la población estudiada. Estudio prospectivo de cohortes, 150 pacientes sintomáticos respiratorios que acudieron a la consulta de Neumotisiología del Distrito Sanitario Nº3 (n=115) y a la emergencia de Medicina Interna del Hospital Miguel Pérez Carreño (n=35), desde junio de 1995 hasta agosto de 1996. Se tomaron 2 muestras sucesivas de esputo para baciloscopia, cultivo, susceptibilidad a drogas y genotificación por análisis de polimorfismos de longitud de fragmentos de restricción. Se obtuvieron 14 baciloscopias positivas (9,3 por ciento) y 16 cultivos positivos para Mycobacterium tuberculosis, de los cuales 10 fueron baciloscopias positivas y 6 baciloscopias negativas. Se encontró resistencia en 3 cepas: isoniacida (1), estreptomicina (1) y thiocetazona (1), lo que representa una resistencia global del 20 por ciento. El análisis de polimorfismos de longitud de fragmantos de restricción realizado en 14 cepas demostró patrones diferentes. No hay relación epidemiológica entre las cepas aisladas; la resistencia global fue del 20 por ciento y no se encontró multirresistencia

Genotipagem na artrite reumatóide, Alelos HLA-Classe II: HLA-DRB1 *0102 associados á sucetibilidade e HLA-DRB1 *0401 e 0404 associados á agressividade / Genotyping in the rheumatoid arthritis, Alelos HLA-class II: HLA-DRB1 *0102 associated to the susceptibility and HLA-DRB1 *0401 and 0404 associated to aggressiveness

A associação de antígenos de histocompatibilidade com artrite reumatóide (AR) vem sendo demonstrada em inúmeros estudos. A principal associação em população caucasóide é como HLA-DR4, contudo, também vem sendo observada com HLA-DR4 está mais associado com a gravidade do que com suscetibilidade. Com a introdução das técnicas de biologia molecular foi possível determinar que, os substipos do HLA-DR4, relacionados com AR, são os alelos HLA-DRB1 *0401, 0404 e 0405, que estão mais associados á gravidade da doença do que com a suscetibilidade. Em alguns estudos verificou-se, também os subtipos do HLA-DR1 associados com a doença são os alelos HLA-DRB1 *0101 e *0102. Os propósitos deste estudo foram analisar a frequência dos antígenos HLA-DR, identificar os alelos específicos do HLA-DRB1, determinar sua frequência, correlacionar estes alelos com as manifestações clínicas e laboratoriais e caracterizar aqueles que podem predizer o padrão evolutivo da AR em pacientes causasóides.(AU)

Tomografia de susceptibilidade magnética com campo gradiente / Tomography of magnetic susceptibility with gradiente field

A tomografia de susceptibilidade magnetica (MST) é uma técnica recente, ainda em fase de desenvolvimento, que consiste em se obter a distribuição tridimensional de susceptibilidade do interior do corpo a partir de medidas da pertubação no campo magnetico imposto detectada por um magnetômetro supercondutor (SQUID). Estudos anteriores mostraram ser possivel a reconstrução em baixa resolução com campo uniforme e não uniforme. Neste trabalho investigamos o cenario onde um campo de gradiente uniforme é empregado.

Abstract - Magnetic susceptibility tomography (MST) is a recent technique still under development that provides a three dimensional susceptibility distribution of the body's interior based on measurements of the perturbation on the imposed magnetic field detected by a superconducting magnetometer (SQUID). On this work we have investigated the scenario where a uniform gradient field is employed