Chronic granulomatous disease in pediatric patients: 25 years of experience.

INTRODUCTION: Chronic granulomatous disease (CGD) is an uncommon primary immune deficiency (affecting 1/200,000 newborn infants) caused by a defect in phagocyte production of oxygen metabolites, and resulting in bacterial infections produced by catalase-positive microorganisms and fungal diseases that occasionally may prove fatal. METHODS: A review is made of the clinical records of 13 pediatric patients diagnosed with CGD between 1980 and 2005. RESULTS: All patients were males. The mean age at diagnosis was 36 months. The clinical manifestations at the time of diagnosis comprised the following: Abscesses or abscessified adenopathies 4/13 (Staphylococcus aureus (2), Serratia liquefaciens, S. marcescens and Klebsiella sp.), pneumonia 3/13 (Rhodococcus equi, Salmonella typhimurium plus Pneumocystis jiroveci), osteomyelitis 1/13 (Aspergillus sp.), sepsis 1/13 (S. aureus), urinary infection 1/13 (Klebsiella sp.), severe gastroenteritis 1/13, oral aphthae 1/13 and Crohn-like inflammatory bowel disease 1/13. The diagnosis was initially established by the nitroblue tetrazolium test, and confirmed by flow cytometry 10/13 and genetic techniques (gp91) 9/13. In the course of these disease processes there were 88 infections: abscesses (n = 26), lymphadenitis (n = 12), pneumoniae (n = 10), gastroenteritis (n = 7), sepsis (n = 6), osteomyelitis (n = 3) and others (n = 24). As to the germs isolated, the frequency distribution was as follows (n = 49): Aspergillus sp. (n = 10), Staphylococcus sp. (n = 7), Salmonella sp. (n = 6), Serratia sp. (n = 5), Pseudomonas aeruginosa (n = 4), Klebsiella sp. (n = 4), Proteus sp. (n = 3), Leishmania sp. (n = 2) and others (n = 8). IFN-gamma was administered in 7/13 cases, and itraconazole in 9/13; all received cotrimoxazole. There were four deaths, with one case each of sepsis due to gramnegative bacterial infection; disseminated aspergillosis; visceral leishmaniasis and hemophagocytosis; and post-kidney transplant complications. CONCLUSIONS: Clinical suspicion and flow cytometry are the keys for diagnosis of CGD and detection of carrier relatives. Specific prophylactic measures and medical controls are required to prevent serious infections. IFN-gamma has been used intermittently, though its effectiveness is controversial.

Chronic granulomatous disease in pediatric patients: 25 years of experience / Enfermedad granulomatosa crónica en pediatría: 25 años de experiencia

Introduction: Chronic granulomatous disease (CGD) is an uncommon primary immune deficiency (affecting 1/200,000 newborn infants) caused by a defect in phagocyte production of oxygen metabolites, and resulting in bacterial infections produced by catalase-positive microorganisms and fungal diseases that occasionally may prove fatal. Methods: A review is made of the clinical records of 13 pediatric patients diagnosed with CGD between 1980 and 2005. Results: All patients were males. The mean age at diagnosis was 36 months. The clinical manifestations at the time of diagnosis comprised the following: Abscesses or abscessified adenopathies 4/13 (Staphylococcus aureus (2), Serratia liquefaciens, S. marcescens and Klebsiella sp.), pneumonia 3/13 (Rhodococcus equi, Salmonella typhimurium plus Pneumocystis jiroveci), osteomyelitis 1/13 (Aspergillus sp.), sepsis 1/13 (S. aureus), urinary infection 1/13 (Klebsiella sp.), severe gastroenteritis 1/13, oral aphthae 1/13 and Crohn-like inflammatory bowel disease 1/13. The diagnosis was initially established by the nitroblue tetrazolium test, and confirmed by flow cytometry 10/13 and genetic techniques (gp91) 9/13. In the course of these disease processes there were 88 infections: abscesses (n = 26), lymphadenitis (n = 12), pneumoniae (n = 10), gastroenteritis (n = 7), sepsis (n = 6), osteomyelitis (n = 3) and others (n = 24). As to the germs isolated, the frequency distribution was as follows (n = 49): Aspergillus sp. (n = 10), Staphylococcus sp. (n = 7), Salmonella sp. (n = 6), Serratia sp. (n = 5), Pseudomonas aeruginosa (n = 4), Klebsiella sp. (n = 4), Proteus sp. (n = 3), Leishmania sp. (n = 2) and others (n = 8). IFN-ã was administered in 7/13 cases, and itraconazole in 9/13; all received cotrimoxazole. There were four deaths, with one case each of sepsis due to gramnegative bacterial infection; disseminated aspergillosis; visceral leishmaniasis and hemophagocytosis; and post-kidney transplant complications. Conclusions: Clinical suspicion and flow cytometry are the keys for diagnosis of CGD and detection of carrier relatives. Specific prophylactic measures and medical controls are required to prevent serious infections. IFN-gamma has been used intermittently, though its effectiveness is controversial

Introducción: La enfermedad granulomatosa crónica (EGC) es una inmunodeficiencia primaria infrecuente (1/200.000 recién nacidos vivos) por defecto de la producción de metabolitos del oxígeno por los fagocitos, causando infecciones bacterianas por microorganismos catalasa positivos y fúngicas, en ocasiones letales. Métodos: Revisión de historias clínicas de 13 pacientes diagnosticados de EGC en edad pediátrica de 1980 a 2005. Resultados: 100% varones. Edad mediana al diagnóstico: 36 meses. Clínica al diagnóstico: abscesos o adenopatías abscesificadas 4/13 (Staphylococcus aureus (2), Serratia liquefaciens, S. marcescens y Klebsiella sp.), neumonía 3/13 (Rhodococcus equi, Salmonella typhimurium más Pneumocystis jiroveci), osteomielitis 1/13 (Aspergillus sp.), sepsis 1/13 (S. aureus), infección urinaria 1/13 (Klebsiella sp.), gastroenteritis grave 1/13, aftas orales 1/13 y enfermedad inflamatoria intestinal Crohn-like 1/13. Diagnosticados inicialmente por Nitroblue Tetrazolium Test, confirmados por citometría de flujo 10/13 y genéticamente (gp91) 9/13. En su evolución presentaron 88 infecciones: abscesos (26), adenopatías (12), neumonías (10), gastroenteritis (7), sepsis (6), osteomielitis (3) y otras (24). Gérmenes aislados (49): Aspergillus sp. (10), Staphylococcus sp. (7), Salmonella sp. (6), Serratia sp. (5), Pseudomonas aeruginosa (4), Klebsiella sp. (4), Proteus sp. (3), Leishmania sp. (2) y otros (8). Han recibido Interferón Gamma 7/13; itraconazol 9/13 y todos cotrimoxazol. Cuatro fallecidos (1 sepsis por un bacilo gram negativo, 1 aspergilosis diseminada, 1 leishmaniasis visceral y hemofagocitosis, 1 complicaciones post-trasplante renal). Conclusiones: La sospecha clínica y la citometría de flujo son los pilares del diagnóstico en la EGC para el paciente y para la detección de familiares portadores. Debemos establecer una profilaxis específica y controles médicos para prevenir infecciones graves. Se ha usado intermitentemente IFN-gamma, aunque su efectividad es discutida

[Tumor necrosis factor-alpha in human immunodeficiency virus infection]. / El factor de necrosis tumoral alfa en la infección por el virus de la immunodeficiencia humana.

BACKGROUND: The aim of the present was to determine the levels of the tumor necrosis factor (TNF)-alpha in patients with HIV infection to study the relationship with the concentration of triglycerides (TG), CD4 lymphocyte count and clinical diagnosis. METHODS: Seventy-eight HIV-infected patients (58 males, 20 females); mean age 32 years presenting different clinical situations were studied. TNF, TG, CD4 lymphocyte count, and clinical diagnosis at the time of the study were analyzed. RESULTS: The mean TNF values in the sample was 25.5 x 10(-3) pg/l with a confidence interval of 95% (Cl 95%), 16.6 x 10(-3) pg/l to 34.4 x 10(-3) pg/l with a trend to being higher in the group with less than 200 x 10(6) CD4/l (Cl 95%: 18.6 x 10(-3) pg/l-44.3 x 10(-3) pg/l). Mean TG values in the sample were 2.02 milligrams (Cl 95%: 1.72 milligrams-2.31 milligrams) being significantly higher in the group with less than 200 x 10(6) CD4/l (X = 2.35 +/- 1.32 milligrams; p < 0.005). TNF concentrations were found to be significantly higher in the group with acute infection (Cl 95%: 27 x 10(-3) pg/l-69 x 10(-3) pg/l) with respect to the group without infection at the time of the study (Cl 95% 7 x 10(-3) pg/l-19 x 10(-3) pg/l). The correlation coefficient between TNF and TG was r = 0.34 (p = 0.01). CONCLUSIONS: Both the tumor necrosis factor and triglycerides are high in patients with HIV infection and CD4 lower than 200 x 10(6)/l. The correlation between tumor necrosis factor and triglyceride concentrations is positive and significant. The increase in the former is more important when there is concomitant infection and could be considered as a marker of opportunistic infection.

[The teaching health centers of Barcelona. The opinions of residents]. / Los centros de salud docentes de Barcelona. Opiniones de los residentes.

OBJECTIVE: To examine different aspects of the teaching health centres (THC) in the province of Barcelona as evaluated by the ex-residents (Exc-R) from general practice and community medicine (GP&CM). DESIGN: Descriptive study, gathering information by means of a self-administered postal questionnaire, with an addressed reply envelope. SETTING: Barcelona teaching unit (BTU). PARTICIPANTS: Eighty-one general practitioners whose qualifying years were 1987-89, 1988-90 and 1989-91, and who did their last residents year in the THC of the BTU. MEASUREMENTS AND MAIN RESULTS: There are significant differences (p < 0.05) between the various THC, in terms of: quality of teaching material and library; evaluation of the tutor in terms of attendance of classes and comment on medical histories; and average evaluation of tutor by the Ex-R. CONCLUSIONS: We propose that anonymous evaluations made by residents of their tutors should be generalised and used for, amongst other purposes, maintaining or revoking the accreditations of specific THC or tutors.

[Dyslipemia and HIV-1 infection in intravenous drug addicts]. / Dislipemia e infección por VIH-1 en adictos a drogas intravenosas.

BACKGROUND: It has been demonstrated that hypertriglyceridemia and hypocholesterolemia are frequent signs in homosexual patients with AIDS. Lipid abnormalities of the intravenous drug addict (IVDA) however, and its relation with infection by the human immunodeficiency virus (HIV) have not been sufficiently studied. METHODS: Four hundred thirty-five consecutive patients attended for infectious complications or for carrying out detoxication treatment were studied. Demographic (age, sex), anthropometric (weight, height), use of intravenous drugs (principal drug used, time of addiction) and analytic data (HIV-1 antibodies, total lymphocytes, CD4+ lymphocytes, serum albumin, total cholesterol, plasma triglycerides and transferrinemia) were collected. RESULTS: The age of the patients was found to be between 15-44 years of age. Ninety-five percent were heroin addicts with a time of addiction greater than 4 years. Those who were HIV-1 positive had been drug users for a longer period of time (p < 0.01), had less weight (p < 0.01), lower albuminemia (p < 0.05) and cholesterolemia (p < 0.01), as well as a lower number of CD4+ lymphocytes (p < 0.01). No differences were observed with regard to age, transferrinemia and plasma triglyceride concentration. The prevalence of hypertriglyceridemia (> 1.97 mmol/l; 175 mg/dl) was of 18% for the IVDA with HIV-1 infection and 23% for seronegative individuals (p = 0.3). Hypercholesterolemia was significantly more prevalent in HIV-1 positive individuals (20%) than in the seronegative subjects (9%) (p < 0.01). In the HIV-1 positive patients, most of whom where asymptomatic, a decrease in total cholesterol and an increase in plasma triglycerides was observed according to the decrease in the number of CD4+ lymphocytes. CONCLUSIONS: Infection by the human immunodeficiency virus is accompanied by an increase in plasma triglycerides and a decrease of total cholesterol in relation with the alteration of cellular immunity. However, heroin addicts present some differential characteristics similar to those of chronic alcoholics, poor diet, anorexia induced by opioids, autoimmunity phenomena and recurrent infections throughout drug addiction which may justify lipid abnormalities of multifactorial origin.