Síndrome de Miller Fisher, un desafío diagnóstico de oftalmoplejía: reporte de un caso / Miller Fisher syndrome, a diagnostic challenge of ophthalmoplegia: a case report

El síndrome de Guillain-Barré (SGB), y sus derivados, entre ellos el síndrome de Miller Fisher (SMF); junto a otras patologías de origen neurológico como la Polineuropatía desmielinizante inflamatoria crónica (CIDP), las polineuropatías de causa metabólica, miastenia gravis, esclerosis lateral amiotrófica (ELA), síndrome de Lambert-Eaton, encefalopatía de Wernicke entre otras; presentan signos y síntomas neurológicos de presentación común. De este modo, la importancia del examen neurológico acabado; y los exámenes de apoyo diagnóstico como: laboratorio -destacando el líquido cefalorraquídeo (LCR)-, electromiografía, y toma de imágenes, son cruciales para esclarecer el diagnóstico. Así, es posible ofrecer un tratamiento de forma precoz, basado en la evidencia, y con el objetivo de disminuir la letalidad de la enfermedad. En el presente texto se plasma un subgrupo de patología de SGB, el SMF, el cual posee una incidencia significativamente baja, una clínica característica, y un pronóstico bastante ominoso sin un tratamiento adecuado. En el presente texto se plasma el reporte de un caso abordado en el Hospital San Pablo de Coquimbo, Chile.

Guillain-Barré syndrome (GBS) and its derivatives, including Miller Fisher syndrome (MFS), along others pathologies of neurological origin such as chronic inflammatory demyelinating polyneuropathy (CIDP), metabolic polyneuropathies, myasthenia gravis, amyotrophic lateral sclerosis (ALS), Lambert-Eaton syndrome, Wernicke's encephalopathy and well as others, have common neurological signs and symptoms. In this way, the importance of a thorough neurological examination, and supporting diagnostic tests such as: laboratory, -cerebrospinal fluid (CSF)-electromyography, and imaging, are crucial to clarify the diagnosis. Thus, it is possible to offer early, evidence-based treatment with an aim of reducing the disease's lethality. In the text below we present a subgroup of GBS pathology, MFS, which has a significantly low incidence, a characteristic clinical picture, and a rather ominous prognosis without adequate treatment. In the following text/paper is shown the report of a case approached in San Pablo Hospital, from Coquimbo, Chile.

Características de los coronavirus, origen del SARS-CoV-2, características estructurales, proteínas y factores de virulencia, variantes genéticas / Characteristics of coronaviruses, origin of SARS-CoV-2, characteristics structural, proteins and factors of virulence, genetic variants

Coronaviruses (CoVs) were identified in 1937, they were considered innocuous viruses until the appearance of three highly pathogenic variants, SARS-CoV, MERS-CoV and SARS-CoV-2 causing the current pandemic of Covid-19, so far it is known that its origin is zoonotic, the main reservoir could be bats considering the high homology of CoVs that inhabit this species. Its transmissibility is much higher than that of previous CoVs, possibly in the process of natural selection; it has acquired some or all the mutations necessary for a much more efficient transmission in our species. This condition is specifically attributed to unique characteristics of the SARS-CoV-2 Spike protein that allow it greater affinity and therefore greater infectivity by binding to the angiotensin receptor 2 (ACE-2) present in the host cells. Since the Covid-19 outbreak began at the end of 2019, more than 1,500 mutations have been detected throughout the SARS-CoV-2 genome, however the most significant are those that occur near or in the receptor binding domain (RBD) that could provide variations between 4x to 100x greater infectivity, such is the case of the new variants identified in the United Kingdom, South Africa, Brazil and Japan that force us to take extreme preventive measures and continue research to elucidate strategies to combat the current crisis. (AU)

Inmunodeficiencias en contexto de infección por SARS-CoV-2 / Immunodeficiencies in the context of SARS-CoV-2 infection

SARS-CoV-2 infection in the people has been characterized by great variability in the clinical manifestations, ranging from an asymptomatic infection in some individuals to a fatal disease in others. Recently, the importance of human genetics in determining clinical response has been highlighted. Within this context there are patients who don't become infected despite viral exposure and others who, being young without comorbidities, develop a severe disease.On the other hand, it's under constant investigation whether the presence of a concomitant primary or secondary immunodeficiency determines a different clinical course. (AU)

Prevalencia de resistencia transmitida a drogas antirretrovirales en pacientes con infección por VIH en Chile (2014-2018)

Background: Transmitted drug resistance (TDR) occurs in patients with HIV infection who are not exposed to antiretroviral drugs but who are infected with a virus with mutations associated with resistance. Aim: To determine the prevalence of TDR and characterize HIV reverse transcriptase and protease mutation patterns. Material and Methods: HIV infected antiretroviral treatment-naive patients treated in three centers between 2014 and 2018 were studied. A genotyping study was carried out. The HIVdb Program (Stanford University) and the World Health Organization (WHO) TDR surveillance mutation list were used to register resistance-associated mutations. Results: We enrolled 220 patients aged a median of 29 (interquartile range (IQR) 24-34) years, 99% men. Median CD4 count was 365 cells/μL (IQR 250-499 cells/μL) and median viral load was 39.150 copies/mL (IQR 9,270 −120,000). The overall prevalence of RTD was 10.45% (95% CI 6.7-15.2, N = 23/220). The higher frequency of TDR was against non-nucleoside reverse transcriptase inhibitors, reaching 9.0% (95% CI 5.6-13.6), followed by nucleoside reverse transcriptase inhibitors reaching 1.8% (95% CI 0.49-4.5) and protease inhibitors reaching 0.45% (95% CI 0.01-2.5). The mutations in reverse transcriptase were M41L, L210W, D67N, K70E, M184V, K103N (6.36%, 95% CI 3.5-10.4), G190A, E138A, K101E, and I84V in protease. Conclusions: These results should prompt a change in recommendations for starting antiretoviral therapy, especially in first-line regimens that include non-nucleoside reverse transcriptase inhibitors.

Tratamiento artroscópico en lesión osteocondral subtalar / Arthroscopic treatment of subtalar osteochondral lesion

Las lesiones osteocondrales de la articulación subtalar es una patología infrecuente y de incidencia variable, dado su reporte principalmente como hallazgo en el estudio de dolor crónico de tobillo y ya con cambios degenerativos articulares. La sospecha clínica y el estudio imagenológico dirigido, permiten investigar esas lesiones en estadios iniciales, evitando así el uso de técnicas que no preservan la articulación para su manejo. La artroscopía subtalar es una excelente herramienta tanto diagnóstica como terapéutica para la resolución de dichas lesiones. Dadas las características anatómicas y biomecánicas de la articulación, en estadios iniciales, el manejo mediante sinovectomía y microfracturas es una alternativa con excelentes resultados funcionales. Este trabajo incluye dos casos de lesiones osteocondrales de la faceta posterior de la articulación subtalar manejadas vía artroscópica mediante sinovectomía y microfracturas y su posterior evolución.

Osteochondral lesions in the subtalar joint are an uncommon pathology with a variable incidence, being mainly reported as a finding in chronic ankle pain studies and with already visible degenerative joint changes at time of diagnosis. Clinical suspicion and directed imaging study, allows to investigate these lesions during early stages, thus avoiding the use of invasive techniques with scarce joint preservation. Subtalar arthroscopy is an excellent diagnostic and therapeutic tool for the resolution of these lesions. Given the anatomical and biomechanical characteristics of the joint, in the early stages the management by synovectomy and microfractures is an alternative with excellent functional results. This study includes two cases of osteochondral lesions of the posterior facet of the subtalar joint managed through arthroscopically synovectomy and microfractures and their subsequent evolution.

Enfermedad granulomatosa crónica: tres casos clínicos con diferentes formas de presentación / Chronic granulomatous disease: three cases with different presentations

Introducción: La enfermedad granulomatosa crónica (EGC) es una forma infrecuente de inmunodeficiencia primaria que se caracteriza por una sensibilidad anormal a infecciones bacterianas y fúngicas, debida a un déficit en el complejo nicotinamida adenina dinucleótida fosfato oxidasa (NADPH) en los fagocitos. Objetivo: Describir tres casos de EGC con énfasis en su forma de presentación y realizar una revisión del tema. Casos Clínicos: Se presentan tres casos clínicos, dos de ellos con relación de parentesco (primos en primer grado). Se llegó a diagnóstico molecular en uno de los casos. Se destacan las manifestaciones clínicas: infecciones recurrentes, abscesos, adenitis y granulomas, y complicaciones, con la finalidad de facilitar la sospecha diagnóstica de EGC, debido a la importancia del diagnóstico temprano y el consejo genético. Conclusiones: La EGC es un trastorno inmunológico primario congénito infrecuente, con herencia ligada a X en su mayoría, pero también con formas autosómicas recesivas, con una forma de presentación característica y cuyo diagnóstico debe ser oportuno para evitar complicaciones, realizar profilaxis y tratamiento agresivo de las infecciones y consejo genético.

Introduction: Chronic granulomatous disease (CGD) is a rare form of primary immunodeficiency disease, characterized by an abnormal susceptibility to bacterial and fungal infections, and it is caused by a deficit in the phagocyte nicotinamide adenine dinucleotide phosphate oxidase complex (NADPH), resulting in the inability to generate reactive oxygen species that destroy micro-organisms. The diagnosis is based on clinical characteristics and analysis of phagocytes, and later confirmed by molecular studies. Its management should consider antimicrobial prophylaxis, a search for infections and aggressive management of these. Objective: To describe three cases of CGD emphasizing their forms of presentation and to conduct a review of the condition. Case reports: Three case reports, two of them first cousins, are presented. Molecular diagnosis was reached in one of the cases. Recurrent infections, abscesses, adenitis, granulomas and complications are identified to facilitate the suspected diagnosis of CGD, bearing in mind the importance of early diagnosis and genetic counseling. Conclusions: EGC is a rare congenital primary immunodeficiency disorder, mostly with X-linked inheritance, autosomal recessive form, and a specific presentation form. Its diagnosis should be timely to avoid complications. Prophylaxis and aggressive treatment of infections should be performed, as well as genetic counseling.

Overexpression of hsa-miR-125b during osteoblastic differentiation does not influence levels of Runx2, osteopontin, and ALPL gene expression

Multipotent mesenchymal stromal cells (MSCs) were first isolated from bone marrow and then from various adult tissues including placenta, cord blood, deciduous teeth, and amniotic fluid. MSCs are defined or characterized by their ability to adhere to plastic, to express specific surface antigens, and to differentiate into osteogenic, chondrogenic, adipogenic, and myogenic lineages. Although the molecular mechanisms that control MSC proliferation and differentiation are not well understood, the involvement of microRNAs has been reported. In the present study, we investigated the role of miR-125b during osteoblastic differentiation in humans. We found that miR-125b increased during osteoblastic differentiation, as well as Runx2 and ALPL genes. To study whether the gain or loss of miR-125b function influenced osteoblastic differentiation, we transfected MSCs with pre-miR-125b or anti-miR-125b and cultured the transfected cells in an osteoblastic differentiation medium. After transfection, no change was observed in osteoblastic differentiation, and Runx2, OPN, and ALPL gene expression were not changed. These results suggest that the gain or loss of miR-125b function does not influence levels of Runx2, OPN, and ALPL during osteoblastic differentiation.

Contagem de reticulócitos de cães saudáveis ou anêmicos pela citometria de fluxo / Count of reticulocyte counts of healthy or anemic dogs by flow cytometry

Compararam-se os resultados da contagem de reticulócitos pela microscopia de luz e pelo método da citometria de fluxo em 25 cães saudáveis (controle), 60 cães com anemia regenerativa e 40 com anemia arregenerativa. Houve diferença nas contagens absolutas obtidas pela microscopia de luz e pela citometria de fluxo nos três grupos estudados. A contagem de reticulócitos foi mais alta pela citometria de fluxo que a contagem pela microscopia de luz, mostrando ser um método mais sensível, simples e seguro para a quantificação de reticulócitos.

Counts of reticulocytes using both the light microscopy and flow cytometry (FC) methods in 25 healthy control dogs, 60 dogs with regenerative anemia, and 40 dogs with non-regenerative anemia were compared. The absolute counts were submitted to the paired t-Student test, which determined significant differences (P<0.0001) between those methods in the three studied groups. Counts of retyculocytes were higher under flow cytometry, which proved to be a more sensitive method. Flow cytometry is a simple and reliable method for the quantification of reticulocytes.

Mesenchymal stem cells from patients with chronic myeloid leukemia do not express BCR-ABL and have absence of chimerism after allogeneic bone marrow transplant

Bone marrow is a heterogeneous cell population which includes hematopoietic and mesenchymal progenitor cells. Dysregulated hematopoiesis occurs in chronic myelogenous leukemia (CML), being caused at least in part by abnormalities in the hematopoietic progenitors. However, the role of mesenchymal stem cells (MSCs) in CML has not been well characterized. The objectives of the present study were to observe the biological characteristics of MSCs from CML patients and to determine if MSCs originate in part from donors in CML patients after bone marrow transplantation (BMT). We analyzed MSCs from 5 untreated patients and from 3 CML patients after sex-mismatched allogeneic BMT. Flow cytometry analysis revealed the typical MSC phenotype and in vitro assays showed ability to differentiate into adipocytes and osteoblasts. Moreover, although some RT-PCR data were contradictory, combined fluorescence in situ hybridization analysis showed that MSCs from CML patients do not express the bcr-abl gene. Regarding MSCs of donor origin, although it is possible to detect Y target sequence by nested PCR, the low frequency (0.14 and 0.34 percent) of XY cells in 2 MSC CML patients by fluorescence in situ hybridization analysis suggests the presence of contaminant hematopoietic cells and the absence of host-derived MSCs in CML patients. Therefore, we conclude that MSCs from CML patients express the typical MSC phenotype, can differentiate into osteogenic and adipogenic lineages and do not express the bcr-abl gene. MSCs cannot be found in recipients 12 to 20 months after BMT. The influence of MSCs on the dysregulation of hematopoiesis in CML patients deserves further investigation.

Immunological effects of donor lymphocyte infusion in patients with chronic myelogenous leukemia relapsing after bone marrow transplantation

Allogeneic bone marrow transplantation (alloBMT) is the only curative therapy for chronic myelogenous leukemia (CML). This success is explained by the delivery of high doses of antineoplastic agents followed by the rescue of marrow function and the induction of graft-versus-leukemia reaction mediated by allogeneic lymphocytes against host tumor cells. This reaction can also be induced by donor lymphocyte infusion (DLI) producing remission in most patients with CML who relapse after alloBMT. The immunological mechanisms involved in DLI therapy are poorly understood. We studied five CML patients in the chronic phase, who received DLI after relapsing from an HLA-identical BMT. Using flow cytometry we evaluated cellular activation and apoptosis, NK cytotoxicity, lymphocytes producing cytokines (IL-2, IL-4 and IFN-gamma), and unstimulated (in vivo) lymphocyte proliferation. In three CML patients who achieved hematological and/or cytogenetic remission after DLI we observed an increase of the percent of activation markers on T and NK cells (CD3/DR, CD3/CD25 and CD56/DR), of lymphocytes producing IL-2 and IFN-gamma, of NK activity, and of in vivo lymphocyte proliferation. These changes were not observed consistently in two of the five patients who did not achieve complete remission with DLI. The percent of apoptotic markers (Fas, FasL and Bcl-2) on lymphocytes and CD34-positive cells did not change after DLI throughout the different study periods. Taken together, these preliminary results suggest that the therapeutic effect of DLI in the chronic phase of CML is mediated by classic cytotoxic and proliferative events involving T and NK cells but not by the Fas pathway of apoptosis.

Traumatismos de vejiga / Urinary bladder trauma

El trabajo objetiva el análisis retrospectivo de pacientes con traumatismos vesicales, enfatizando los mecanismos de producción, los cuadrois clínicos, el diagnóstico, los índices de trauma, los tratamientos y las eventuales complicaciones. En los últimos ochoaños, fueron atendidos 42 pacientes con traumatismos de la vejiga con una edad media de 32,9 años, siendo la mayoría de sexo masculino (81 por ciento) Los traumatismos cerrados fueron más frecuentes (24 casos- 57,1 por ciento). Un 75 por ciento de ellos (dieciocho pacientes) presentaban fractura de pelvis. Un 42,9 por ciento (18 pacientes), fueron víctimas de heridas penetrantes en el abdomen, la mayoría (77,8 por ciento- 14 pacientes) por heridas de armas de fuego. En la admisión, la hematuria fue el signo observado en el 88,1 por ciento de los pacientes (37 casos) mientras que la hemouretrorragia sólo se observó como signo aislado en 4 pacientes. El RTS medio (Revised Trauma Score) (índice de trauma) calculado fue del 7,31. El diagnóstico se hizo con cistografías, ecografías, laparoscopia, y el lavado peritoneal diagnóstico (lavativa peritoneal). La mayoría de las heridas vesicales fueron intraperitoneales ( 36 pacientes- 85,7 por ciento) que se trataron con sutura quirúrgica a cielo abierto. El tratamiento expectante sólo se hizo en los 6 pacientes en los que pudo comprobarse únicamente heridas extraperitoneales. El ISS (Injury Severity Score) (índice de severidad de lesión) y TRISS medios, fueron respectivamente 24,3 y 0,89. Las complicaciones y el tiempo de internación fueron mayores en los que tenían fracturas de los huesos pelvianos. La mortalidad general fue del 11,9 por ciento (5 pacientes). Las heridas de la vejiga pueden ser diagnosticadas fácilmente con los elementos aportados por los antecedentes, el examen físicoi y el auxilio de los métodos imagenológicos. La evolución de estos pacientes es buena y está relacionada con las heridas asociadas

Prevalencia de disfunción erectil en una población masculina diabética cerrada / Prevalence of erectile dysfunction in the males with diabetes mellitus

Este trabajo presenta un estudio observacional de tipo prevalencia de Disfunción Eréctil (DE) en la población masculina portadora de Diabetes Mellitus controlada en el Hospital Clínico de la Fundación de Salud El Teniente. Se realiza un cuestionario personal a 170 pacientes con edad por sobre los 40 años. La prevalencia global de DE encontrada fue de 52,2 por ciento. Este valor es mayor en pacientes con algún grado de daño de parénquimas producto de la diabetes. Existe un aumento de prevalencia de DE a medida que aumenta la edad de los pacientes y el tiempo de evolución de la diabetes

Sildenafil v/s placebo en pacientes diabéticos con disfunción eréctil / Sildenafil v/s placebo in diabetic patients with erectile dysfunction

Realizamos un ensayo clínico controlado doble ciego, cruzado, con sildenafil 50 mg, v/s placebo, en pacientes diabéticos de disfunción eréctil. Evaluamos la calidad de la erección, presencia de efectos adversos y el logro de una relación sexual satisfactoria. Se invitó a 56 pacientes, de los cuales aceptaron 32. terminando el estudio sólo 23 (72 por ciento). La edad promedio fue de 55,2 años, tiempo de evolución de la diabetes 11,4 años. Un 48 por ciento logró una relación sexual satisfactorio y un 13 por ciento con placebo (p<0,01). La cefalea se presentó en el 16 por ciento con sildenafil y en un 4 por ciento con placebo (p=0,036 N.S). El sildenafil es una alternativa a considerar en el tratamiento de la disfunción eréctil, fácil administración y baja incidencia de efectos adversos

Reflujo duodenogástrico: estudio de validación de su visualización endoscópica / Duodenogastric reflux: comparison of its endoscopic visualization with quantitation of bile acids in fasting gastric content

Background: Duodenogastric reflux is a normal event that can be deleterious to the esophagic or gastric mucosa, depending on its magnitude, persistence, composition and gastric pH. There is not a definitive method to measure this phenomenon. Aim: to compare the endoscopic visualization of duodenogastric reflux with the quantification of total bile acids in fasting gastric content (QTBA). Patients and methods: The presence of duodenogastric reflux, defined as the stainig of gastric walls with bile during upper gastrointestinal endoscopy, was assessed in 62 patients (26 male), aged 21 to 73 years old. During the week after the endoscopy a sample of fasting gastric content was obtained to measure QTBA, using an enzymatic method. Results: Median QTBA was 0.205 umol/gastric residue. Fourteen of 31 patients with QTBA values over the median had endoscopically visible duodenogastric reflux, whereas 1 of 31 with values below the median had visible reflux (p<0.001). Conclusions: Endoscopic visualization of duodenogastric reflux is statistically associated to the quantitation of total bile acids in fasting gastric residue