Constanza Pinochet

Listeria monocytogenes: Informe de un aumento de casos en mujeres embarazadas y revisión de la literatura

Abstract Listeria monocytogenes, rare pathogen in the general population, causes serious infections in patients at the extreme ages of life, pregnant woman, and those with immunosuppression. The clinical manifestations are essential to suspect the disease in patients at risk, allowing an early prescription of antimicrobial therapy, before the results of the cultures are available. Clinical course and prognosis depends on how early treatment is started and, in pregnant women, the gestational age. In Clinica Alemana, at Santiago, we detected a 15 fold rate rise of neonatal listeriosis between year 2007 and 2008. Ten cases were diagnosed between January and July 2008 and the seven cases occurring in pregnant women are reported here. All these patients were in their first pregnancy, which could be associated with similar lifestyle and food habits. Considering this new epidemiological scenario, it is important to educate the population, and to conduct an epidemiological study in order to determine the national situation of Listeria monocytogenes infection.

Sirolimus en trasplante de órgano sólido pediátrico: Experiencia en 5 casos

Background: Sirolimus (SRL) is an immunosuppressive drug increasingly used in children undergoing solid organ transplantation. SRL does not cause glucose intolerance, hypertension, nephrotoxicity or neurotoxicity, offering significant potential advantages over calceneurin inhibitors (CNI). Aim: To report five children treated with SRL. Material and methods: A retrospective review of four children undergoing orthotopic liver transplantation (OLT) and one undergoing renal transplantation with recurrent acute rejection (RAR), chronic rejection (CR) or toxicity due to CNI, treated with SRL between June 2001 and November 2006. Results: As primary immunosuppressive therapy, all patients received 3 drugs: CNI (Tacrolimus (FK) or Cyclosporine), mycophenolate mofetil and steroids. Mean age at treatment with SRL was 98 months. Children undergoing OLT had a late

Serum Cortisol and Cortisone as Potential Biomarkers of Partial 11β-Hydroxysteroid Dehydrogenase Type 2 Deficiency

BACKGROUND Pathogenic variations in HSD11B2 gene triggers the apparent mineralocorticoid excess syndrome (AME). There is scarce information regarding the phenotypes of subjects carrying heterozygous pathogenic variants in HSD11B2 gene. We investigated if serum cortisol/cortisone (F/E) ratio and cortisone are useful for identifying partial 11βHSD2 deficiency in those heterozygous subjects. METHODS We studied two patients diagnosed with AME and their families carrying either D223N or R213C mutation. We also evaluated 32 healthy control subjects (13 children and 19 adults) to obtain normal references ranges for all measured variables. Case 1: A boy carrying D223N mutation in HSD11B2 gene and Case 2: A girl carrying R213C mutation. We assessed serum F/E ratio and cortisone by HPLC-MS/MS, aldosterone, plasma-renin-activity(PRA), electrolytes, and HSD11B2 genetic analyses. RESULTS The normal values (median [interquartile range]) in children for serum F/E and cortisone (µg/dl) were 2.56 [2.21-3.69] and 2.54 [2.35-2.88], and in adults were 4.42 [3.70-4.90] and 2.23 [1.92-2.57], respectively. Case 1 showed a very high serum F/E 28.8 and low cortisone 0.46 µg/dl. His mother and sister were normotensives and heterozygous for D223N mutation with high F/E (13.2 and 6.0, respectively) and low cortisone (2.0 and 2.2, respectively). Case 2 showed a very high serum F/E 175 and suppressed cortisone 0.11 µg/dl. Her parents and sister were heterozygous for the R213C mutation with normal phenotype, but high F/E and low cortisone. Heterozygous subjects showed normal aldosterone, PRA, but lower fractional excretion of sodium and urinary Na/K ratio than controls. CONCLUSION Serum F/E ratio and cortisone allow to identify partial 11βHSD2 deficiencies, as occurs in heterozygous subjects, who would be susceptible to develop arterial hypertension.

Síndrome febril prolongado: un desafío para el infectólogo pediatra

Introduccion: El sindrome febril prolongado (SFP) se define como fiebre entre 7-10 dias, con estudio inicial que no permite un diagnostico etiologico. Objetivo: Describir las principales etiologias del SFP y su comportamiento temporal en la unidad de infectologia pediatrica ambulatoria del Complejo Asistencial Dr. Sotero del Rio (CASR). Pacientes y Metodo: Estudio descriptivo, prospectivo, entre enero de 2007-diciembre de 2012. Analisis de 153 pacientes entre 6 semanas y 14 anos 11 meses de edad, con diagnostico de SFP, que completaron ficha de seguimiento clinico-laboratorial. Resultados: Se obtuvo diagnostico etiologico en 67,9%, las causas fueron: infecciones (88,4%), neoplasias (4,8%), reumatologicas (4,8%) y enfermedad de Kawasaki (2,8%). Las causas infecciosas mas importantes fueron: fiebres entericas (tifoidea y paratifoidea) (18,4%), infeccion del tracto urinario (11,9%), enfermedades por Bartonella henselae y adenovirus (8,7%) cada uno y virus de Epstein Barr (7,6%). El 98% de los pacientes tuvo resolucion completa, 60,7% no requirio hospitalizacion y no se registraron decesos. Discusion: Como en las series clinicas antes publicadas, las infecciones fueron la causa mas frecuente de SFP. La fiebre enterica persiste como causa principal; sin embargo, se evidencia una situacion epidemiologica oscilante en el tiempo justificando la necesidad de contar con estadisticas locales a lo largo de los anos para mejorar el enfoque diagnostico y terapeutico.INTRODUCTION Prolonged febrile syndrome (PFS) is defined as fever 7-10 days, with initial study does not allow etiologic diagnosis. OBJECTIVE To describe the main causes of the PFS and its temporal behavior in Pediatric Infectious Diseases Unit Outpatient Care of Complejo Asistencial Dr. Sótero del Río (CASR). PATIENTS AND METHODS A descriptive, prospective study between january 2007-december 2012, about 153 patients from 6 weeks to 14 years 11 months old, diagnosed with PFS, tab completing clinical and laboratory monitoring. RESULTS etiology was obtained in 67.9%, the causes were infection (88.4%), neoplasms (4.8%), rheumatological (4.8%) and Kawasaki disease (2.8%). The most important infectious causes were enteric fevers (typhoid and paratyphoid) (18.4%), urinary tract infection (11.9%), Bartonella henselae infections and adenovirus (8.7%) each one and Epstein Barr virus (7.6%). Ninety eight percent of patients had complete resolution, 60.7% did not require hospitalization and mortality was 0%. DISCUSSION As in previous pediatric clinical series the infections were the most frequent causes. Enteric fever persists as principal cause, however, the epidemiological evidence is oscillating in time endorsing the local statistics can count over the years to improve the diagnostic and therapeutic approach.

Efectividad de la vacuna antivaricela como profilaxis post exposición en niños chilenos

INTRODUCTION Efficacy and effectiveness of varicella vaccine (VV) as post exposure prophylaxis (PEP) strategy have shown discordant results for disease risk reduction, and more consistent results in their ability to attenuate the disease. AIM To assess the effectiveness of VV as PEP among household contacts. MATERIAL AND METHODS We followed up 33 children after household exposure to a varicella case, of which 15 received VV as PEP and 18 did not received VV. The presence and severity of the disease were clinically determined. RESULTS Secondary attack rate was 53% among vaccinated and 89% among non-vaccinated children. Overall effectiveness of VV as PEP was 40% (CI95% 1%-64%). The effectiveness for preventing moderate or severe disease was 63% (CI95% 8%-85%) in the entire group and 77% (CI95% 14%-94%) among children vaccinated during the first 3 days post exposure. Vaccine tolerance was acceptable, with a low number of adverse reactions, all of them mild. CONCLUSION The results suggest that VV as PEP is effective among household contacts, especially for reducing the severity of the disease.

PS 10-19 SERUM CORTISONE AND CORTISOL/CORTISONE RATIO AS TOOL TO IDENTIFY SUBJECTS WITH SEVERE AND PARTIAL 11BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 DEFICIENCIES

Objective: To report the phenotype of patients with AME by clinical and biochemical study, and expanding the study to their families and unrelated subjects to assess the value of F/E ratio as a biomarker partial deficiency of 11&bgr;HSD2. Design and Method: We evaluated 2 AME patients and their families. Family 1: A 17 years-old male with a homozygous Asp223Asn (D223N) mutation in HSD11B2, his mother (33 years) and sister (8 years); and Family 2: A 2 years-old girl with a homozygous Arg213Cys (R213C) mutation in HSD11B2, his father (30 years), her mother (30 years) and sister (6 years). We measured serum potassium, aldosterone, plasma renin activity (PRA), microalbuminuria, NGAL and F/E ratio (HPLC-MS). Reference ranges (RR), percentiles (p) and cut-off points for F, E and F/E serum were determined on data obtained from adult and pediatric normotensive subjects (F/E children RR: 1.63 to 5.15 and F/E adults RR:2.6–7.8]). Genetic analyses were performed by PCR-HRM and DNA sequencing. Results: Family 1: Index case (mut D223N) with classical AME features and a high serum F/E ratio (28.8 (> p99)). His mother and sister were normotensive and heterozygous for the same mutation D223N without clinical and biochemical abnormalities but with high F/E ratios (13.1 (p97) and 7.4 (p97)), respectively). Family 2: Index case (mut R213C) with classical AME and and a high F/E (175 (>p99)). His father, mother and sister were heterozygous for R123C, and are clinically and biochemically normal except for high F/E ratios (p92, p93 and p85, respectively). Conclusions: A F/E ratio greater than p90 –often associated to a cortisone lesser than p30- in relatives of subjects with AME suggests that partial heterozygous alterations or deficit in HSD11B2 are able to be identified by studying the serum cortisone and F/E ratio without prior clinical or biochemical features of classic AME such as AH, suppressed PRA and hypokalemia.

Quilotórax a Tensión: Reporte de Dos Casos

El dano del ducto toraxico que ocasiona un quilotorax es una complicacion bien conocida y documentada de las cirugias cardiotoraxicas. Sin embargo, el desarrollo de quilotorax a tension es raramente reportado, siendo un evento que puede poner en riesgo la vida del paciente. Objetivo: Comunicar 2 pacientes, quienes presentaron compromiso hemodinamico y respiratorio de caracter grave, secundario al desarrollo de quilotorax. Casos: El primer paciente, de dos meses de edad, ocurrio luego de tres semanas de efectuarse una cirugia de Norwood-Sano, quien presento un grave colapso ventilatorio y hemodinamico. El segundo paciente, de 1 mes de edad, desarrollo una falla respiratoria aguda y oliguria dos dias posterior al cierre de un ductus arterioso persistente. En ambos casos la instalacion de un tubo pleural resulto en la liberacion de quilo a gran presion y una rapida resolucion de los sintomas. Conclusion: Los dos casos aqui reportados evidencian que el quilotorax puede presentar efectos hemodinamicos y respiratorios deletereos. El pronto reconocimiento y tratamiento de esta entidad son esenciales para el optimo pronostico del paciente.

Falla hepática fulminante en niños

Acute liver failure in children. Experience of a liver transplant center Background: Acute liver failure (ALF) in childhood is defined as biochemical evidence of liver injury, absence of known chronic liver disease and coagulopathy not corrected by vitamin K administration, with INR greater than 1.5 if the patient has encephalopathy or greater than 2.0 if the patient does not have encephalopathy. Objective: Report the experience of a single liver transplant center (LT) in the treatment of 8 children with ALF and review the literature. Method: Retrospective review of clinical charts of patients with ALF. Results: The median age was 8 years-old (range 0-11), three females. Five patients underwent LT. Two patients died, one of them LT. The etiologies were 4 undetermined, 1 autoimmune, 1 Wilson Disease, 1 Parvovirus and 1 chronic graft rejection. All grafts were from cadaver donor, 3 of them reduced. Two out of five patients with encephalopathy grade III-IV died. The one year survival rate was 75%. Conclusions: Children with ALF should be treated in experienced centers with facilities for liver transplant. Transplantation should be offered only if the underlying disease is treatable by liver replacement and if transplant prognosis is better than that of the underlying disease. (Key words: acute liver failure, liver transplant). Rev Chil Pediatr 2009; 80 (2): 144-149