Tratamiento y evolución de la encefalitis inmunomediada en edad pediátrica, serie de casos / Treatment and outcome of immune-mediated encephalitis in children, a case series

Introducción: La encefalitis por anticuerpos contra el receptor N-metil.D.aspartato (NMDA-R) es un trastorno inflamatorio del sistema nervioso central (SNC) en el cual autoanticuerpos dirigidos hacia la subunidad NR1 del receptor N-metil-D aspartato (NMDA) desarrollan un conjunto de síntomas neuropsiquiátricos, convulsiones y movimientos anormales. El tratamiento recomendado incluye metilprednisolona (MP) y gamaglobulina (IVIg), y/o recambio plasmático terapéutico (RPT); y en caso de no respuesta: rituximab (RTX) y/o ciclofosfamida (CFM). Objetivos: Analizar características clínicas, bioquímicas, electroencefalograma (EEG), resonancia magnética (RM) cerebral, tratamientos recibidos y resultados observados en una serie de pacientes con encefalitis autoinmune (EA) probable o confirmada. Materiales y métodos: Analizamos las historias clínicas de pacientes menores a 17 años que cumplían criterios diagnósticos de Graus (2016) para EA probable, con seguimiento mayor a 6 meses, internados en el Hospital Garrahan entre 2008 y 2023. El diagnóstico se definió por la identificación de anticuerpos anti-NMDAR (N-metil D-aspartato) en líquido cefalorraquídeo (LCR) por ensayo basado en células - cell bassed assay (CBA). Resultados: Reunieron criterios de EA probable 94 pacientes con una edad media de 89.5 meses, 51% mujeres. Se dividieron en dos grupos: seropositivos y seronegativos de acuerdo al resultado del biomarcador. Seropositivos 45/94. El síntoma inicial más frecuente fue: convulsiones. El 28% requirió ingreso a Unidad de Cuidados Intensivos (UCI). 4 pacientes seropositivos y 1 seronegativo tuvieron encefalitis por el virus del herpes simple (Om) previamente. En una paciente seronegativa se diagnosticó teratoma ovárico. Hallazgos de estudios complementarios: LCR patológico en el 29%, RM cerebral en el 52%, EEG en el 74%. El tratamiento de primera línea más empleado fue MP + IVIg. El 46% de los pacientes presentó recuperación completa. Entre los pacientes que recibieron RTX, el 65% tuvo una recuperación completa. Ningún paciente que recibió RTX presentó recaída. Conclusión: Ante la sospecha de EA se debe considerar el inicio temprano de inmunoterapia para favorecer la rápida recuperación funcional. Se recomienda el uso temprano de RTX en los casos con presentación grave o respuesta subóptima al tratamiento de primera línea para beneficiar la respuesta clínica y reducir el riesgo de recaída (AU)

Introduction: Encephalitis due to antibodies against the N-methyl-D-aspartate receptor (NMDA-R) is an inflammatory disorder of the central nervous system (CNS) in which autoantibodies directed against the NR1 subunit of the N-methyl-D-aspartate (NMDA) receptor develop a set of neuropsychiatric symptoms, seizures, and abnormal movements. The recommended treatment includes methylprednisolone (MP) and intravenous immunoglobulin (IVIg), and/or therapeutic plasma exchange (TPE); and in case of non-response: rituximab (RTX) and/or cyclophosphamide (CFM). Objectives: To analyze clinical, biochemical, electroencephalogram (EEG), magnetic resonance imaging (MRI) of the brain, treatments received, and outcomes observed in a series of patients with probable or confirmed autoimmune encephalitis (AE). Materials and methods: We analyzed the medical records of patients under 17 years of age who met Graus' diagnostic criteria (2016) for probable AE, with follow-up of more than 6 months, hospitalized at Hospital Garrahan between 2008 and 2023. Diagnosis was defined by the identification of anti-NMDAR antibodies (N-methyl D-aspartate) in cerebrospinal fluid (CSF) by cell-based assay (CBA). Results: Ninety-four patients met criteria for probable AE with a mean age of 89.5 months, 51% female. They were divided into two groups: seropositive and seronegative according to the biomarker result. Seropositive 45/94. The most frequent initial symptom was seizures. Twenty-eight percent required admission to the Intensive Care Unit (ICU). Four seropositive patients and one seronegative patient had previously had herpes simplex encephalitis (Om). Ovarian teratoma was diagnosed in one seronegative patient. Findings of complementary studies: Pathological CSF in 29%, brain MRI in 52%, EEG in 74%. The most commonly used first-line treatment was MP + IVIg. Forty-six percent of patients experienced complete recovery. Among patients who received RTX, 65% had complete recovery. No patient who received RTX experienced relapse. Conclusion: In the suspicion of AE, early initiation of immunotherapy should be considered to promote rapid functional recovery. Early use of RTX is recommended in cases with severe presentation or suboptimal response to first-line treatment to benefit clinical response and reduce the risk of relapse (AU)

Uso del cannabis medicinal en niños con encefalopatías epilépticas farmacorresistentes. Experiencia en Hospital Garrahan / Use of medicinal cannabis in children with drug-resistant epileptic encephalopathies. Experience at Garrahan Hospital

Objetivo: Reportamos resultados sobre la efectividad, seguridad y tolerancia del cannabidiol como adyuvante terapéutico en pacientes pediátricos con encefalopatías epilépticas del desarrollo (EED) resistentes al tratamiento farmacológico y no farmacológico tras un seguimiento promedio de 20 meses. Métodos: Se realizó un estudio de cohorte prospectivo para evaluar la eficacia, la seguridad y la tolerancia del aceite de cannabis medicinal enriquecido con CBD añadido a los medicamentos anticonvulsivos estándar en niños con EED resistentes a los medicamentos atendidos en un único centro. Resultados: Entre octubre de 2018 y marzo de 2020, se incluyeron 59 pacientes. La edad media en el momento del inicio del protocolo fue de 10,5 años (rango, 2-17 años). La mediana de la duración del tratamiento fue de 20 meses (rango, 12-32). La mediana de edad en el momento de la primera convulsión fue de 8 meses (rango, 1 día - 10 años). Al final del seguimiento, el 78% de los niños tenía una disminución ≥ 50% en frecuencia de las crisis y el 47,5% tenía una disminución > 75%. Siete pacientes (11,9%) estaban libres de convulsiones. El número de crisis se redujo de una mediana de 305/mes a 90/mes, que supone una reducción media del 57% y una mediana del 71% (p < 0,0001). Los efectos adversos fueron en su mayoría leves o moderados. El CBD se interrumpió en 17 pacientes (28,8%) por falta de respuesta al tratamiento, aumento de la frecuencia de las convulsiones, intolerancia al fármaco o cumplimiento terapéutico insuficiente. Conclusión: En los niños con EED resistentes a los fármacos, el tratamiento a largo plazo del cannabis medicinal enriquecido con CBD como terapia adyuvante resultó ser seguro, bien tolerado y eficaz. Las reducciones sostenidas en la frecuencia de las convulsiones y la mejora de los aspectos de la vida diaria se observaron en comparación con nuestros preliminares (AU)

Objective: We report results on the effectiveness, safety, and tolerance of cannabidiol (CBD) as add-on therapy in children with developmental and epileptic encephalopathies (DEE) resistant to pharmacological and non-pharmacological treatment after a mean follow-up of 20 months. Methods: A prospective cohort study was conducted to evaluate the efficacy, safety, and tolerability of CBD-enriched medical cannabis oil added to standard antiseizure medications in children with drug-resistant DEEs seen at a single center. Results: Between October 2018 and March 2020, 59 patients were included. The median age at protocol initiation was 10.5 years (range, 2-17 years). Median treatment duration was 20 months (range, 12-32). The median age at the time of the first seizure was 8 months (range, 1 day - 10 years). At the end of follow-up, 78% of the children had a decrease ≥ 50% in seizure frequency and 47.5% had a decrease of > 75%. Seven patients (11.9%) were seizure free. The number of seizures was reduced from a median of 305/month to 90/month, accounting for a mean reduction of 57% and a median of 71% (p < 0.0001). Adverse effects were mostly mild or moderate. CBD was discontinued in 17 patients (28.8%) due to lack of response to treatment, increased seizure frequency, drug intolerance, or poor compliance. Conclusion: In children with drug-resistant DEE, long-term treatment with CBD-enriched medicinal cannabis as add-on therapy proved to be safe, well tolerated, and effective. Sustained reductions in seizure frequency and improvement in aspects of daily living were observed compared to our preliminary results (AU)

Manejo expectante de osteocondroma solitario interóseo de la tibia distal: reporte de un caso y revisión de la literatura / Non-surgical management of an interosseous solitary osteochondroma of the distal tibia: a case report and review of the literature

La localización del osteocondroma en la tibia distal es poco frecuente y su crecimiento con compromiso y deformidad del peroné distal es aún más raro, haciéndolo una condición más sintomática que en otras ubicaciones. Factores como la severidad de los síntomas, deformidad progresiva del tobillo, complicaciones sindesmóticas, riesgo de fractura patológica o transformación maligna, junto con nuevas y mejores técnicas quirúrgicas, han llevado a que el manejo expectante de esas lesiones sea excepcional y escasamente reportado. Presentamos el caso de un joven de 17 años con osteocondroma solitario interóseo tibio distal sintomático y compromiso fibular, que fue exitosamente manejado en forma expectante. A los 5 años de seguimiento clínico-radiológico no presenta complicaciones y la lesión se mantiene estable.

Osteochondromas located in the distal tibia are a rare condition, and the involvement of the distal fibula with deformity is even more uncommon. Factors such as the severity of symptoms, progressive deformity of the ankle, syndesmotic complications, the risk of pathological fracture or malignant transformation, together with new and safer surgical techniques, have led to scarce reports of non-surgical management. We present a case report of a 17-year-old male with a symptomatic interosseous solitary osteochondroma in the distal tibia with fibular involvement, which was successfully managed non surgically. After 5 years of clinical and radiological follow-up, he has no complications, and the lesion remains stable.

Sublethal effects in Perinereis gualpensis (Polychaeta: Nereididae) exposed to mercury-pyrene sediment mixture observed in a multipolluted estuary.

Sediment-living organisms can be subjected to a multi-pollution condition due to an increase in the diversity of contaminants. Sediment mixtures of Mercury (Hg) and some polycyclic aromatics hydrocarbons like Pyrene (Pyr) are common in heavily industrialized coastal zones. In the present study, greater than (>) and less than (<) probable effect concentration levels (PELs) of Hg and Pyr were assessed using spiked sediments in order to determine combined (Hg + Pyr) effects in uptake, metabolization and oxidative balance in the polychaete Perinereis gualpensis at short and medium-term exposure. Hg + Pyr significantly influenced the uptake/kinetics of Hg and Pyr metabolite 1-OH-pyrene in polychaete tissues during the exposure time compared with separate treatments of each analyte (p < 0.05). Both the Hg-only and Pyr-only exposures significantly influenced both enzymatic and non-enzymatic responses respect to control groups (p < 0.05). The Hg-only treatment showed the worst scenario related to the activation and subsequent inhibition of glutathione S- transferase (GST) and peroxidase (GPx) activities, high levels of Thiol-groups (SH-groups), low antioxidant capacity (ACAP) and enhanced lipid peroxidation (TBARS) in the last days of exposure (p < 0.05). In contrast, ragworms exposed to Hg + Pyr showed a significant increase in both enzymatic and non-enzymatic activity during the first days of exposure and the absence of lipid peroxidation during the whole experiment. Our results suggest different oxidative stress scenarios in P. gualpensis when exposed to >PEL Hg concentration with

Patients with prior vertebral or hip fractures treated with teriparatide in the Direct Assessment of Nonvertebral Fractures in Community Experience (DANCE) observational study.

SUMMARY: In patients in the Direct Assessment of Nonvertebral Fractures in Community Experience (DANCE) observational study with and without a prior vertebral or hip fracture, the incidence of nonvertebral fractures was lower with >6 months of teriparatide treatment than during the first 6 months. INTRODUCTION: Clinical evidence on the effect of teriparatide in patients with prior fracture is limited. In the DANCE observational study, the incidence of nonvertebral fragility fractures (NVFX) decreased significantly in patients receiving teriparatide for >6 months (6-24 months) versus >0 to ≤6 months (reference period). METHODS: We performed a post hoc analysis to assess the effect of teriparatide 20 µg/day in patients who entered DANCE with prior vertebral or hip fractures. The incidence of patients experiencing a NVFX for four 6-month intervals during and after treatment was compared with the reference period. RESULTS: Overall, 4085 patients received ≥1 dose of teriparatide. Of 3720 with sufficient data for efficacy analysis, 692 had prior vertebral fracture, including 179 with previous kyphoplasty/vertebroplasty; 290 had prior hip fracture. These patients were older, and those with prior vertebral fractures had more comorbid conditions at baseline than those without prior vertebral fractures. The incidence of patients experiencing NVFX declined over time in all patient groups. The fracture incidence rate declined 49 and 46%, respectively, in patients with and without prior vertebral fracture and was 63 and 46% lower in patients with previous kyphoplasty/vertebroplasty and without prior vertebral fracture. NVFX declined 43 and 48% in patients with and without prior hip fracture. The reduced incidence over time was consistent in the subgroups (all interaction p values >0.05). Patients with prior fracture were more likely to experience serious adverse events. CONCLUSION: The incidence of NVFX decreased over time in patients receiving teriparatide in DANCE regardless of prior fracture status.

Differential response of two somatolactin genes to zinc or estrogen in pituitary of Cyprinus carpio.

Environmental changes affect gene expression that we addressed in the pituitary, a central regulatory organ at the interface between the central nervous system and the endocrine system. With the aim to reveal effects of changes in the aquatic environment on the expression of hypothalamo-hypophyseal factors, we characterized somatolactin (SL) in Cyprinus carpio. SL, a fish specific pituitary hormone belonging to the prolactin (PRL) superfamily, is involved in background adaptation, osmoregulation, reproduction and fatty acid metabolism. Two sl genes, α and ß, were discovered in carp and transcripts of both were detected in pituitaries. Clearly, expression of slα and slß was modulated significantly in pituitary of male adult carp in response to treatment with ZnCl2 (Zn), but only slß responded to 17ß-estrogen (E2), relative to control carp as shown by RT-qPCR analyses. Furthermore, the amount of mRNA of related factors was assessed revealing variable effects on prl, growth hormone (gh), and factors involved in sl regulation: the pituitary transcription factor pit1 and hypothalamic pituitary adenylase cyclase activating peptide (pacap). In parallel, the physiological response of the experimental animals to Zn or E2 was confirmed by showing a significant increase of metallothionein (mt) or vitellogenin (vg) gene expression in liver, classical sentinels for exposure to heavy metal or estrogens. These data suggest that the sl genes seem to be involved in the response to Zn, as well as to estrogen, and could contribute to evaluate biological relevant changes in the aquatic environment.

Tratamiento quirúrgico de los tumores de parótida: experiencia de 10 años / Surgical treatment of parotid neoplasms: a 10 years experience

Background: Parotid neoplasms correspond to 3 percent of head and neck tumors. Most are benign, treatment is parotidectomy. Aims: To analyze the results of treatment, histology, complications and recurrence. Patients and Methods: Retrospective analysis of patients with parotid tumors treated in our center among 2001-2010. Results: The series consisted of 82 patients, 52 (63 percent) women. Average age: 46 years (range, 17-77), 73 (89 percent) had benign tumors, 7 (8.5 percent) were malignant and 2 (2.4 percent) had chronic inflammatory disease. The most common benign tumors were pleomorphic adenoma (55 percent) and Warthin's tumor (20 percent). The most common malignant tumors were mucoepidermoid carcinoma (5 percent) and acinar cell carcinoma (4 percent). The technique was total parotidectomy in 10 patients (12 percent), total suprafacial 53 (64.6 percent) and partial in 19 (23 percent). The most common complication was transient facial nerve dysfunction in the immediate postoperative period in 38 cases (46.3 percent), 14 (17 percent) had surgical bed depression, 15 (18.3 percent), dysesthesia periauricular, 2 (2.4 percent) permanent paralysis of the facial nerve (tumor) and 6 (7.3 percent) Frey Syndrome. No patient had a disagreement with his scar and pain periauricular, there were no recurrences. There was lesser transient facial nerve paralysis with partial suprafacial parotidectomy than with total suprafacial parotidectomy (21 percent and 53 percent), RR 0.4 IC 95 percent (0.16-0.99). Discussion: The application of less invasive surgical techniques such as partial parotidectomy suprafacial allow comparable results in benign conditions, with low morbidity without increasing recurrence.

Introducción: Las neoplasias parotídeas corresponden al 3 por ciento de los tumores de cabeza y cuello. La mayoría son benignas, el tratamiento es la parotidectomía. Objetivo: Analizar los resultados del tratamiento, histología, complicaciones y recurrencia. Pacientes y Métodos: Análisis retrospectivo de los pacientes con tumores parotídeas intervenidos en nuestro centro entre 2001-2010. Resultados: La serie estuvo compuesta por 82 pacientes, 52 (63 por ciento) mujeres. La edad promedio: 46 años (rango, 17-77); 73 (89 por ciento) tuvieron tumores benignos, 7 (8,5 por ciento) malignos y 2 (2,4 por ciento) presentaron enfermedad inflamatoria crónica. Los tumores benignos más frecuentes fueron el adenoma pleomorfo (55 por ciento) y el tumor de Warthin (20 por ciento). Los tumores malignos más frecuentes fueron el carcinoma mucoepidermoide (5 por ciento) y el carcinoma de células acinares (4 por ciento). La técnica fue parotidectomía total en 10 pacientes (12 por ciento), suprafacial total en 53 (64,6 por ciento) y parcial en 19 (23 por ciento). La complicación más frecuente fue la disfunción transitoria del nervio facial en el postoperatorio inmediato en 38 casos (46,3 por ciento); 14 (17 por ciento) presentaron depresión del lecho operatorio, 15 (18,3 por ciento) disestesia periauricular, 2 (2,4 por ciento) parálisis permanente del nervio facial (tumor maligno) y 6 (7,3 por ciento) Síndrome de Frey. Ningún paciente presentó disconformidad con su cicatriz ni dolor periauricular; no hubo recidivas. Se observó menos parálisis transitoria del nervio facial con la parotidectomía suprafacial parcial que con la parotidectomía suprafacial total (21 por ciento y 53 por ciento, respectivamente), RR 0,4 IC 95 por ciento (0,16-0,99). Discusión: La aplicación de técnicas quirúrgicas menos agresivas como la parotidectomía suprafacial parcial permite obtener resultados comparables en patologías benignas, con bajas tasas de morbilidad, sin aumentar la recurrencia.

Alternativas reconstructivas post maxilectomía por enfermedad neoplásica / Reconstructive alternatives post maxillectomy for oncologic disease

Introducción: La reconstrucción de defectos mediofaciales representa un gran desafío. Los maxilares son los huesos más importantes del esqueleto facial, proveen soporte entre base del cráneo y arcos maxilares, separan cavidades, participan en la deglución, fonación, masticación, visión y apariencia. La maxilectomía conlleva diferentes grados de alteración funcional. La reconstrucción maxilar va desde el uso de prótesis obturadoras, colgajos locales hasta colgajos libres. Objetivo: Presentar las alternativas reconstructivas post maxilectomía por enfermedad neoplásica utilizadas en nuestro centro. Pacientes y Métodos: Análisis retrospectivo de todos los pacientes sometidos a maxilectomía por causa oncológica entre los años 2008 y 2011. Resultados: La serie estuvo compuesta por 12 pacientes, 8 mujeres, mediana de edad 57 años (rango 25-84). Se realizó maxilectomía Tipo IIA a cinco pacientes, Tipo IIB a dos pacientes, Tipo IIIA a cuatro pacientes y IIIB a un paciente. Se logró R0 en todos los casos. La reconstrucción se realizó con prótesis obturadora en cuatro pacientes, tres pacientes con colgajos pediculados y cinco pacientes con colgajos microquirúrgicos. En todos los pacientes se logró un resultado funcional adecuado. En un paciente hubo pérdida parcial del colgajo. Discusión: Es recomendable ajustar la alternativa reconstructiva según el pronóstico del paciente. Prótesis obturadoras son una opción para pacientes seleccionados. El colgajo de músculo temporal presenta un buen resultado funcional, recomendado en pacientes con enfermedad avanzada y mal pronóstico. La reconstrucción microquirúrgica es la alternativa de elección con los mejores resultados funcionales y estéticos en pacientes con maxilectomías Tipo II, III y IV.

The reconstruction of midfacial defects is a major challenge. The maxillary bones are the more important of the facial skeleton, provide support between skull base and maxillary arches, separate cavities and are involved in swallowing, phonation, mastication, vision and appearance. The maxillectomy involves varying degrees of functional impairment. The maxillary reconstruction ranges from the use of obturator prosthesis, local flaps to free flaps. Aim: To present the different reconstructive alternatives used after a maxillectomy for oncologic disease in our hospital. Patients and Methods: Retrospective analysis of all patients that was submitted to a maxillectomy for oncologic disease between 2008 and 2011 in our center. Results: The series consisted of 12 patients, 8 women and median age 57 years (range, 25-84). We realized Type IIA maxillectomy in five patients, IIB to two patients, IIIA to four patients and IIIB to one patient. We achieved R0 in all cases. The reconstruction was realized with obturator prosthesis in four patients, three patients with pedicled flaps and five patients were reconstructed with free flaps. All patients obtain an adequate functional status. One patient has partial flap loss. Discussion: Is recommended adjust the surgical choice to the patient prognosis. The obturator prosthesis is a good choice for selected group. The temporal muscle flap presents adequate functional results and is recommended in advanced disease and poor prognosis. The microsurgical reconstruction is the best choice with better functional and aesthetics outcomes in type II, III and IV maxillectomy.

Hipotiroidismo congénito, reporte de un caso / Congenital hypothyroidism, a case report

El hipotiroidismo congénito (HC) es la endocrinopatía más frecuente en el recién nacido, presenta una frecuencia de 1:3163 nacimientos. En Chile el tamizaje neonatal se realiza mediante un test de determinación de la tirotrofina (TSH)en papel filtro. CASO CLÍNICO: recién nacido de parto eutócico de3180 gr. y Apgar 9-10 a los 5 minutos; que ingresó al servicio de Neonatología al sexto día de vida por cuadro de ictericia asociado a hipoactividad y dificultad para alimentarse. Se diagnosticó hiperbilirrubinemia neonatal con sospecha de un cuadro infeccioso. Se trató con antibióticos y fototerapia intensiva disminuyendo la bilirrubinemia total de 28,57 a 14 mg/dl. Posterior al tratamiento recae en hipoactividad y con dificultad para alimentarse. Se solicitan exámenes de control, encontrándose bilirrubinemia mantenida de 18 mg/dl y hematocrito 35,7 por ciento, planteándose la posibilidad de una enfermedad metabólica, por lo que se realizaron exámenes que son enviados a Santiago para confirmación de patología metabólica; desde Santiago confirman una TSH venosa alterada de762 uIU/ml y una T4 total de 0.53 ug/dl, diagnosticando un hipotiroidismo congénito, por lo que se inició tratamiento con Levotiroxina15 ug/Kg/día. DISCUSIÓN: el hipotiroidismo congénito es una patología poco común de difícil diagnóstico, pero fácilmente detectable tamizaje neonatal midiendo TSH. En Chile, la estrategia de toma de este examen en los tiempos especificados según la categoría del recién nacido, facilita la prevención de complicaciones. En cambio cuando el tamizaje es retrasado, sólo queda la sospecha de esta entidad patológica...

Congenital hypothyroidism (CH) is the most common endocrinopathy newborn, and occurs in approximately1:3163 births. In Chile the newborn screening test is performed by a determination of thyrotropin (TSH) on filter paper. CASE REPORT: Newborn by eutocic delivery of 3180 gr. and 9-10 Apgar at 5 minutes; was admitted to the neonatology unit at six day of life because of jaundice associated with hypoactivity and poor feeding. Neonatal hyperbilirubinemia with suspected infectious condition was diagnosed and treated with antibiotics and intensive phototherapy decreasing total bilirubin 28.57 to14 mg/dl. Although treatment, the patient remains hypoactive and with poor feeding. Screening tests showed a persistent billirubin of 18mg/dl and hematocrit 35.7 percent, raising the possibility of a metabolic disease. Test were performed and sent to Santiago for confirmation, and congenital hypothyroidism was confirmed with and elevated serum TSH 762 uIU/ml and low T40.53 ug/dl, treatment with levothyroxine 15 ug/kg/day was started. DISCUSSION: Congenital hypothyroidism is a rare disease difficult to diagnose, but easily detected by neonatal screening of TSH measurement. In Chile the strategy of taking this exam at specific times according newborn categorization, facilitates the prevention of complications. However, when the screening is delayed, we can only suspect this pathological entity...

Unicompartmental knee replacement after high tibial osteotomy: Invalidating a contraindication.

The outcome of high tibial osteotomy (HTO) deteriorates with time, and additional procedures may be required. The aim of this study was to compare the clinical and radiological outcomes between unicompartmental knee replacement (UKR) and total knee replacement (TKR) after HTO as well as after primary UKR. A total of 63 patients (63 knees) were studied retrospectively and divided into three groups: UKR after HTO (group A; n = 22), TKR after HTO (group B; n = 18) and primary UKR (group C; n = 22). The Oxford knee score (OKS), Knee Society score (KSS), hip-knee-ankle angles, mechanical axis and patellar height were evaluated pre- and post-operatively. At a mean of 64 months (19 to 180) post-operatively the mean OKS was 43.8 (33 to 49), 43.3 (30 to 48) and 42.5 (29 to 48) for groups A, B and C, respectively (p = 0.73). The mean KSS knee score was 88.8 (54 to 100), 88.11 (51 to 100) and 85.3 (45 to 100) for groups A, B and C, respectively (p = 0.65), and the mean KSS function score was 85.0 (50 to 100) in group A, 85.8 (20 to 100) in group B and 79.3 (50 to 100) in group C (p = 0.48). Radiologically the results were comparable for all groups except for patellar height, with a higher incidence of patella infra following a previous HTO (p = 0.02).

Foam sclerosants are more stable at lower temperatures.

OBJECTIVES: Sclerosant foams are aqueous and break down under the influence of gravity, pressure, and temperature. The aim of this study was to investigate the effects of temperature on foam stability. METHODS: Sodium tetradecyl sulphate (STS) and polidocanol (POL) liquid and foam (1 + 4, liquid-plus-air fraction) were investigated in a range of concentrations (0.5%, 1.5%, 3.0%) and temperatures. Surface tension was measured by the Du Nuoy ring method. Liquid drainage from foam was measured and documented by serial photography. Both pre- and post-cooling variations were investigated. RESULTS: Surface tension decreased at higher temperatures. Surface tension of POL was higher than STS at concentrations tested. POL foam half-time increased significantly at higher concentrations while the half-time of STS foam was not affected by concentration. Heating the sclerosant foam above the ambient temperature reduced its half-time while cooling below the ambient temperature prolonged the half-time. Both pre- and post-cooling of the foams resulted in significant prolongation of half-times when compared to no cooling. Maximum stability of the two sclerosant foams tested was achieved at 10 °C. CONCLUSIONS: Foam sclerosants are more stable at cooler temperatures.

An adenine insertion in exon 6 of human GP6 generates a truncated protein associated with a bleeding disorder in four Chilean families.

BACKGROUND: Glycoprotein VI (GPVI), 60-65 kDa, is a major collagen receptor on platelet membranes involved in adhesive and signaling responses. Mice lacking GPVI have impaired platelet response to collagen and defective primary adhesion and subsequent thrombus formation. Complete or partial deficiency of GPVI in humans is a rare condition presenting as a mild bleeding disorder. The defect in most of the reported patients is acquired and associated with other diseases. To date, only two patients have been characterized at the molecular level who carry different compound heterozygous mutations in the GP6 gene. OBJECTIVE: To report four unrelated patients from non-consanguineous families who presented with mucocutaneous bleeding. They had absent platelet aggregation and (14) C-5-HT secretion with collagen, convulxin and collagen-related peptide. RESULTS: Flow cytometry and immunofluorescence-confocal microscopy showed an absence of GPVI in non-permeabilized platelets. All the patients had an adenine insertion in exon 6 (c.711_712insA), changing the reading frame and generating a premature 'stop codon' in site 242 of the protein. The mutation predicts the synthesis of the truncated protein before the trans-membrane domain, corresponding to a band of ≈49 kDa observed in western blots and in permeabilized platelets by immunofluorescence. Platelet mRNA from all the patients was sequenced and contained the corresponding adenine insertion. Heterozygous relatives had no pathological bleeding, normal response to collagen and convulxin and intermediate membrane expression of GPVI. CONCLUSIONS: The identification of four unrelated homozygous patients with an identical defect suggests that inherited GPVI deficiency is more frequent than previously suspected, at least in Chile.

La actividad física debe ser parte de la rehabilitación psicosocial en las personas afectadas de esquizofrenia / Physical activity should be part of psychosocial rehabilitation of people affected in schizophrenia

La esquizofrenia es una enfermedad que se asocia a un mayor riesgo de patología cardiovascular, por una serie de factores. Es por ello que es sumamente importante tener en cuenta esta comorbilidad asociada y considerar el fomento de hábitos de vida saludable y muy especialmente el ejercicio físico, como uno de los pilares fundamental del tratamiento individualizado. En este ensayo se discute la importancia del ejercicio físico, las recomendaciones de la literatura internacional en este aspecto y cómo utilizar los recursos disponibles en un equipo de psiquiatría organizado de acuerdo al modelo comunitario de atención, articulado de manera eficiente con la atención primaria, buscando la mejoría de los hábitos de vida en los usuarios que atendemos, portadores de esquizofrenia.

Schizophrenia is a disease associated with a increased risk of a cardiovascular pathology by a number of factors. That is why it is extremely important to note this and consider comorbidity promoting healthy lifestyles and especially exercise, as one of the key pillars of individualized treatment. This paper discusses the importance of exercise, the recommendations of the international literature in this area and how to use available resources in a psychiatric team organized according to community care model, articulated efficiently with primary care, looking to improve healthy lifestyle habits in users we serve, affected by schizophrenia.

Microangiopatía trombótica en paciente con diagnóstico de lupus eritematoso sistémico: revisión de la literatura en relación a un caso clínico / Thrombotic microangiopathy in patients diagnosed with systemic lupus erythematosus: literature review with regards to a clinical case

El Síndrome Púrpura Trombótico Trombocitopénico/Síndrome Hemolítico Urémico (PTT/SHU) es la principal causa de Microangiopatía Trombótica (MAT) en pacientes con Lupus Eritematoso Sistémico (LES). Entre sus manifestaciones destacan la presencia de anemia hemolítica autoinmune, con trombocitopenia y falla renal en grados variables. No existe correlación entre los niveles de actividad de ADAMTS 13 y MAT. Presentamos un caso clínico de MAT asociado a LES. Se debe tener una alta sospecha diagnóstica por la sobreposición de las manifestaciones clínicas de PTT/SHU y LES. El tratamiento con plasmaféresis ha disminuido la mortalidad de 90 por ciento a 15 por ciento. En casos refractarios se ha reportado el uso de Rituximab, aunque aún falta evidencia que lo avale.

The thrombotic Thrombocytopenic Purpura Syndrome / Hemolytic Uremic Syndrome (TTP/HUS) is the main cause behind Thrombotic Microangiopathy (TMA) in patients with Systemic Lupus Erythematosus (SLE). Among the ways in which it manifests itself is the presence of autoimmune hemolytic anemia (AIHA), with thrombocytopenia and kidney failure in various degrees. There is no co-relation between the levels of activity of ADAMTS13 and TMA. We present a clinical case of TMA associated to SLE. A high suspicion is paramount for diagnose due to the overlapping of clinical manifestations of TTP/HUS and SLE. Treatment with plasmapheresis has decreased mortality from 90 percent to 15 percent. Use of Rituximab in refractory cases has been reported, albeit a lack of supporting evidence.

Autoinmunidad inducida por drogas: a propósito de un caso / Drug-induced auto-immunity: on account of a case

Se presenta el caso de una paciente de 35 años con antecedentes de enfermedad de Basedow-Graves, en tratamiento con propiltiouracilo (PTU), consumidora de pasta base y cocaína, que ingresa por fenómenos trombóticos en extremidades. Presenta en forma brusca falla respiratoria severa, que requiere manejo en UCI. Al laboratorio inmunológico destacan: ANA (+), AntiDNA (+), Anti-Ro (+), Anti-cardiolipinas IgG (+). Se realiza una revisión de las entidades autoinmunes más frecuentes asociadas al uso de drogas.

It presents the case of a 35-year old patient with a history of Basedow Graves disease, under treatment with Propiltiouracile (PTU), crack and cocaine user, who was admitted on thrombotic phenomena in her limbs. She presents sudden severe respiratory failure that requires handling at ICU. Under immunologic lab tests, the following stand out: ANA (+), Anti-DNA (+), Anti-Ro (+), Anti-cardiolipines IgG (+). A checkup is made of the most frequent auto-immune entities associated to drug abuse.

Adaptación y validación de la versión chilena de la escala de impacto de evento-revisada (EIE-R) / Assessment of the impact of event scale revised for post traumatic stress disorder in Chilean subjects

Background: Impact of Event Scale Revised (IES-R), that evaluates the subjective perception of stress, is used to assess post traumatic stress disorder simptoms. Aim: To adapt and validate IES-R to the Chilean population. Material and Methods: Two hundred seventy eight subjects exposed to stressful life events of varying magnitude were assessed using the IES-R, the Beck Depression Inventory, the anxiety and somatoform subscales of the Depressive, Anxiety and Somatoform Disorders Scale and the AUDIT Questionnaire. Results: IES-R had adequate psychometric properties in terms of internal consistency, test-retest reliability, convergent and discriminating validity. It identified a principal factor, explaining 67 percent of the variance. Conclusions: The IES-R can be used in the Chilean population to assess the degree of suffering produced by a traumatic event.