Apresentação atípica de síndrome de hiper-IgM ligada ao X simulando doença inflamatória intestinal / Atypical presentation of X-linked hyper-IgM syndrome simulating inflammatory bowel disease

Relatamos o caso de um paciente do sexo masculino, que iniciou quadro de úlceras em trato gastrointestinal, associado a febre recorrente e diarreia com muco e sangue aos 10 meses de vida, suspeitado inicialmente de doença inflamatória intestinal, no entanto, não apresentou melhora do quadro com terapia imunossupressora, sendo realizada investigação para erro inato da imunidade. Nos exames laboratoriais, apresentou níveis baixos de IgG e IgA e níveis elevados de IgM e neutropenia persistente. Diante disso, foi realizado teste genético que confirmou diagnóstico de síndrome de hiper-IgM ligada ao X. Os erros inatos da imunidade podem se manifestar com doenças do trato gastrointestinal, de forma relativamente frequente, devendo entrar como diagnóstico diferencial de diarreia crônica. Inclusa nesse grupo de doenças, as síndromes de hiper-IgM constituem um grupo heterogêneo de doenças, possuindo em comum níveis significativamente baixos ou ausentes de IgG e IgA e níveis normais ou elevados de IgM, o que predispõe a infecções e febre recorrente; além de outras alterações laboratoriais, como neutropenia, que pode estar associada a úlceras no trato gastrointestinal e proctite, simulando apresentação clínica de doença inflamatória intestinal. Para o paciente relatado, foi iniciada terapia com imunoglobulinas de forma periódica, além de antibioticoprofilaxia para infecções, evoluindo com resposta clínica satisfatória. O artigo possui objetivo principal de alertar para o diagnóstico diferencial de erros inatos da imunidade diante do quadro apresentado, visando o diagnóstico precoce e a instituição da terapia adequada.

We report the case of a male patient, who started with ulcers in the gastrointestinal tract, associated with recurrent fever and diarrhea with mucus and blood at 10 months of life, initially suspected of inflammatory bowel disease, however, he did not improve the condition with immunosuppressive therapy, being investigated for inborn error of immunity. In laboratory tests, he had low levels of IgG and IgA and high levels of IgM and persistent neutropenia. Therefore, a genetic test was performed and confirmed the diagnosis of X-linked hyper IgM syndrome. Inborn errors of immunity can manifest relatively frequently with diseases of the gastrointestinal tract, and should be included as a differential diagnosis of chronic diarrhea. Included in this group of diseases, hyper-IgM syndromes constitute a heterogeneous group of diseases, having in common significantly low or absent levels of IgG and IgA and normal or high levels of IgM, which predispose to infections and recurrent fever; in addition to other laboratory alterations, such as neutropenia, which may be associated with ulcers in the gastrointestinal tract and proctitis, simulating the clinical presentation of inflammatory bowel disease. For the reported patient, therapy with immunoglobulins was started periodically, in addition to antibiotic prophylaxis for infections, evolving with a satisfactory clinical response. The main objective of the article is to alert to the differential diagnosis of inborn errors of immunity in view of the presented condition, aiming at early diagnosis and the institution of adequate therapy.

Análisis retrospectivo de las características y utilización de los recursos de salud en pacientes con cáncer de próstata resistente a la castración metastásico tratados con Enzalutamida o Acetato de Abiraterona en Colombia / Retrospective Analysis of the Characteristics and Utilization of Health Resources in Patients with Castration Resistant Prostate Cancer Treated with Enzalutamide or Abiraterone Acetate in Colombia

Objetivo Describir las características demográficas, clínicas, los recursos de salud utilizados y los costos directos del tratamiento del cáncer de próstata resistente a la castración metastásico (CPRCm), tratados con enzalutamida o acetato de abiraterona en Colombia. Métodos Mediante un estudio de corte transversal se analizaron datos de utilización de servicios de una EPS (entidad promotora de salud) colombiana. Para ello, se identificaron los pacientes que durante el 1 de julio de 2016 y 30 de junio de 2017 (fecha índice) presentaron registro de uso de enzalutamida o acetato de abiraterona y se confirmaron sus antecedentes de castración química o quirúrgica (6 meses previos a la fecha índice). Se establecieron las frecuencias de uso de servicios en dicha población y se extrajo el consumo reportado asociado a consultas (urgencias, consulta externa), procedimientos y medicamentos en el periodo de análisis. Los costos se organizaron por categorías y se reportaron en pesos colombianos (COP) 2016. Resultados se identificaron 161 pacientes con CPRCm con edad media de 77 años, se determinó que el departamento colombiano con más población de CPRCm en esta cohorte fue el Valle del Cauca, que 98,1% de los pacientes pertenecen al régimen contributivo y que 1,9% al subsidiado. El cálculo de la supervivencia con el índice de comorbilidad de Charlson mostró que esos pacientes tendrían una tasa de supervivencia de 0% a 10 años. Las comorbilidades más frecuentes encontradas fueron hipertensión, diabetes mellitus, insuficiencia renal y otras patologías tumorales relacionadas. El costo total de manejo de un paciente con CPRCm, que recibe de manera continua durante 12 meses abiraterona o enzalutamida es promedio $131.942.292 COP año. Esa cifra incluye tanto el uso de servicios como el consumo de medicamentos, y ese último representa cerca del 90% del costo. Conclusiones los pacientes con cáncer en estadio metastásico se caracterizan por presentar alta demanda de medicamentos, laboratorios, imágenes diagnósticas, visitas ambulatorias e ingresos hospitalarios. Debido a que es una muestra pequeña de pacientes, se requiere desarrollar una valoración posterior que permita corroborar los hallazgos encontrados en este estudio retrospectivo.

Objective describe the demographic, clinical characteristics, the health resources utilization and the direct costs of patients with metastatic castration-resistant prostate cancer (CPRCm) treated with Enzalutamide or Abiraterone Acetate in Colombia. Methods Through a descriptive retrospective analysis through the database of a Colombian health insurer, patients were identified who, during July 1st, 2016 and June 30th, 2017 (index date) were dispensed with enzalutamide or abiraterone acetate, medical history of chemical or surgical castration was confirmed (6 months prior to the index date). The frequencies of use of services in this population were established and the reported consumption associated with consultations (emergencies, outpatient consultation), procedures and medications in the period of analysis were extracted. The costs were organized by categories and were reported according to Colombian pesos (COP) 2016. Results In a cohort of 161 patients with CPRCm with an average age of 77 years, it was determined that Valle del Cauca is the Colombian department with the largest CPRCm population in this cohort. 98.1% of the patients belong to the contributory regimen and 1.9% to the subsidized. The calculation of the patient's survival with the Charlson Comorbidity Index (CCI) showed a 0% survival rate at 10 years and most frequent comorbidities were hypertension, diabetes mellitus, renal failure and other related tumor pathologies. The total cost of managing a patient with CPRCm, who receives continuous abiraterone or enzalutamide for 12 months on average is $ 131,942,292 COP per year, this figure includes both the use of services and the consumption of medications; the latter represents ∼90% of cost. onclusions These patients were characterized by being large demander of health services, namely, medicines, laboratories, images, outpatient visits and inpatient admission. Due to it is a small sample of patients, is necessary to develop a posterior evaluation to corroborate the findings found in this retrospective analysis.

Evaluación de fugas extrarticulares del Fosfato crómico marcado con Fósforo-32 de producción nacional en pacientes hemofílicos / Evaluation of joint leakage of national Chromic Phosphate labeled with Phosphorus-32 in hemophilic patients

La radiosinoviortesis como tratamiento de la artropatía hemofílica, frecuentemente, ofrece excelentes resultados, al reducir grandemente el número de episodios de sangramiento y evitar daños ulteriores a las articulaciones. El Centro de Isótopos desarrolló el fosfato crómico coloidal marcado con Fósforo-32, producto listo para su empleo en pacientes hemofílicos. El objetivo de este trabajo fue evaluar la fuga extrarticular de este radiofármaco utilizado en la radiosinoviortesis en pacientes hemofílicos. Se determinó el porcentaje de fuga extrarticular del radiofármaco en 9 pacientes hemofílicos con sinovitis crónica, a los que se les realizó la radiosinoviortesis en la articulación de la rodilla. La radiactividad se midió, con un contador Geiger-Muller, sobre la rodilla tratada, en sus aspectos lateral, encima y medial; la rodilla contralateral; las cadenas linfáticas inguinales, de ambos lados, y el hígado. Los valores de fuga encontrados posteriormente a la inyección fueron 0,0046 por ciento a los 10 min; 0,0023 por ciento a las 24 horas; 0,1332 por ciento el día 7 y 4,0213 por ciento el día 30. Estos resultados coinciden con los valores comunicados por otros autores y con lo esperado de acuerdo a las características del producto, indican que se ejecutó el proceder adecuadamente y que los pacientes fueron seleccionados correctamente(AU)

Radiosynoviorthesis as a treatment for hemophilic arthropathy often offers excellent results, greatly reducing the number of bleeding episodes and avoiding further damage to the joints. The Isotope Center developed a product, Colloidal Chromic Phosphate labeled with Phosphorus-32, ready for use in hemophiliac patients. Our objective was to evaluate the joint leakage of this radiopharmaceutical use in radiosynoviorthesis in hemophilic patients. The percentage of radiopharmaceutical joint leakage was evaluated in 9 hemophilic patients with chronic synovitis, who underwent radiosynoviorthesis in the knee joint. The radioactivity was measured on the treated knee, in its lateral, above and medial aspects, the contralateral knee, the inguinal lymphatic chains of both sides and the liver, with a Geiger-Muller detector. The leakage values 8203;​found after the injection were 0.0046 percent at 10 minutes, 0.0023 percent at 24 hours, 0.1332 percent on day 7 and 4.0213 percent on day 30. These results are agreed with the values reported by other authors and with was expected according to the characteristics of the product, indicatate that the procedure was executed properly and that the patients were correctly selected(AU)

Effects of a fentanyl-propofol mixture on propofol injection pain: a randomized clinical trial / 대한마취과학회지

BACKGROUND: Propofol injection pain is a common problem that can be very distressing for patients. We compared the effects of injection with saline followed by injection with a fentanyl-propofol mixture, injection with fentanyl followed by a propofol injection, and injection with saline followed by propofol alone on propofol injection pain. METHODS: The patients were assigned randomly to one of three groups. A rubber tourniquet was placed on the forearm to produce venous occlusion for 1 min. Before anesthesia induction, group C (control, n = 50) and group M (fentanylpropofol mixture, n = 50) received 5 ml of isotonic saline, while group F (fentanyl, n = 50) received 2 microg/kg of fentanyl. After the tourniquet was released, groups C and F received 5 ml of propofol and group M received 5 ml of a mixture containing 20 ml of propofol and 4 ml of fentanyl. At 10 s after the study drugs were given, a standard question about the comfort of the injection was asked of the patient. We used a verbal rating scale to evaluate propofol injection pain. Statistical analyses were performed with Student's t-tests and Fisher's exact tests; P < 0.05 was considered to indicate statistical significance. RESULTS: The demographic data were similar among the groups. In group M, the number of patients reporting propofol injection pain was significantly lower than in groups F and C (both P < 0.001). No patient in group F or M experienced severe pain, whereas 24 patients (48%) had severe pain in group C (both P < 0.001). CONCLUSIONS: This study shows that a fentanyl-propofol mixture was more effective than fentanyl pretreatment or a placebo in preventing propofol injection pain.

Modulation of Baroreflexes in Hypertensive Rats / 대한신장학회지

PURPOSE: Baroreceptor reflex regulation has been shown to reset towards a higher blood pressure level. This study was designed to assess alterations of chronotropic baroreflexes in two-kidney, one clip (2K1C) and deoxycorticosterone acetate (DOCA)-salt hypertensive rats. METHODS: Arterial pressure and heart rate (HR) were monitored continuously during intravenous infusions of phenylephrine or sodium nitroprusside. Ensuing reflex HR responses during each drug infusion were determined in two ways: (a) at 10 s intervals (time analysis), and (b) with every 10 mmHg change in pressure (pressure analysis). RESULTS: Both pressor and depressor responses produced by phenylephrine or sodium nitroprusside were comparable between normotensive and hypertensive rats. Both reflex tachycardia and bradycardia were attenuated in 2K1C hypertensive rats as compared with normotensive rats, whereas no significant differences were shown in DOCA-salt hypertensive rats. CONCLUSION: These results indicate that chronotropic baroreflexes are impaired in 2K1C hypertensive rats, but not in DOCA-salt hypertensive rats.

Avaliação do efeito da hipotermia por crioimersão corporal, nos neutrófilos e linfócitos sanguíneos de ratos submetidos ao exercício físico agudo / Evaluation of the effect of hypothermia by cold water immersion on blood neutrophils and lymphocytes of rats submitted to acute exercise

O estresse sistêmico induzido pelo exercício libera substâncias bioativas determinantes da mobilização neutrofílica. A crioterapia diminui a reação inflamatória e atenua a elevação da perfusão sanguínea induzida pelo exercício. O objetivo deste trabalho foi analisar a influência da hipotermia decorrente da crioimersão corporal (CIC) imediata ao esforço físico agudo nas concentrações neutrofílicas e linfocíticas no sangue. Os ratos do grupo controle (AI) foram mantidos em repouso enquanto os do grupo AII foram submetidos ao protocolo de CIC a 10ºC por 10 minutos. Enquanto os animais dos grupos BI, BII, BIII e BIV realizaram o esforço físico agudo (EFA) em água a 31ºC durante 100 minutos com sobrecarga corpórea de 5% do peso corporal, os dos grupos CI, CII, CIII e CIV foram submetidos ao EFA seguido imediatamente de CIC. Nos grupos B e C, os animais foram sacrificados nos períodos de 06 (I), 12 (II), 24 (III) e 48 (IV) horas posteriores ao EFA. Através da microscopia óptica realizou-se a contagem dos neutrófilos e linfócitos. Utilizou-se do Teste T Student para análise estatística considerando-se nível de significância p < 0,05. Observou-se uma significativa neutrofilia nos grupos AII, BI, BII, BIII, BIV, CI, CII e CIII em relação a AI, diferentemente do grupo CIV, que apresentou quantidade de neutrófilos igual ao grupo controle. Os valores de linfócitos nos grupos BII, BIII, BIV, CI e CII foram significativamente menores do que AI, e nos grupos AII, BI, CIII e CIV foram iguais a AI. A neutrofilia e a linfopenia posteriores ao intenso exercício agudo são mantidas por 48 horas ou mais, porém, mediante a aplicação da crioimersão corporal imediata ao exercício, são normalizadas em 24 horas.

Systemic stress induced by exercise increases bioactive substances in plasma which leads to neutrophilic mobilization. Cryotherapy causes a decrease in the inflammatory reaction and attenuates high blood perfusion after exercise. The objective of this work was to analyze the influence of cold water immersion (CWI) after acute exercise on neutrophil and lymphocyte mobilization. A control group of rats (AI) was kept at rest and a second group (AII) was submitted to CWI at 10º C for 10 minutes. The animals of Groups BI, BII, BIII and BIV were submitted to acute exercise which consisted in swimming in water at 31º C for 100 minutes with a load equivalent to 5% of the body weight. Groups CI, CII, CIII and CIV were submitted to CWI immediately after acute exercise. The animals were sacrificed at 6 (I), 12 (II), 24 (III) and 48 (IV) hours after the exercise and neutrophil and lymphocyte cells were counted for all groups by optic microscopy. The Student t-test was used for statistical analysis with a significance level of p< 0.05. A significant increase in the number of neutrophils was observed in Groups AII, BI, BII, BIII, BIV, CI, CII and CIII compared to AI. The neutrophil count of the CIV Group was similar to the Control Group. There was a significant drop in the number of lymphocytes in Groups BII, BIII, BIV, CI and CII when compared to Group AI. The lymphocyte count of Groups AII, BI, CIII and CIV were similar to the Control Group. The changes in neutrophil and lymphocyte counts caused by acute exercise were reverted to normal at 24 hours by cold water immersion.

The possible role of reticulo endothelial system in hepatic regeneration.

Calciphylactic blockade of Reticulo endothelial system (REB) was used to study the role of reticulo-endothelial system (RES) in hepatic regeneration. REB was induced by i.v. egg yolk administration in DHT sensitized animals, which were subsequently partially hepatectomized. Mitotic index and percentage regeneration were studied in these animals 48 hr after partial hepatectomy. REB produced a significant depression of the mitotic index and percentage regeneration in regenerating livers. This suggests that functional integrity of the RES in essential hepatic parenchymal proliferation after partial hepatectomy.