Síndrome de VEXAS: manifestaciones clínicas, diagnóstico y tratamiento / VEXAS syndrome: Clinical manifestations, diagnosis, and treatment

El síndrome de VEXAS (Vacuolas, enzima E1, ligado al X, Autoinflamatorio, Somático) es un síndrome autoinflamatorio de inicio en la edad adulta que se caracteriza por mutaciones somáticas en el gen UBA1 y se considera el prototipo de enfermedad hematoinflamatoria. Los pacientes con síndrome de VEXAS exhiben manifestaciones inflamatorias y hematológicas que pueden conducir a diagnósticos clínicos como policondritis recidivante, poliarteritis nodosa, síndrome de Sweet y síndrome mielodisplásico. El diagnóstico requiere la evaluación de la médula ósea en búsqueda de vacuolas citoplásmicas en precursores mieloides y eritroides. Sin embargo, la confirmación genética de las mutaciones en UBA1 es necesaria. El tratamiento es un desafío y a menudo incluye glucocorticoides e inmunosupresores, con respuestas variables. Las terapias hipometilantes y el trasplante alogénico de células progenitoras hematopoyéticas se consideran terapias prometedoras. El pronóstico es influido por factores genéticos y clínicos. El objetivo de esta revisión es proporcionar una visión general sobre la patogénesis, la presentación clínica, el tratamiento y el pronóstico del síndrome de VEXAS para la comunidad médica latinoamericana.(AU)

VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is an adult-onset autoinflammatory syndrome characterized by somatic mutations in the UBA1 gene and is considered the prototype of hematoinflammatory diseases. Patients with VEXAS syndrome exhibit inflammatory and hematological manifestations that can lead to clinical diagnoses such as relapsing polychondritis, polyarteritis nodosa, Sweet syndrome, and myelodysplastic syndrome. Diagnosis requires bone marrow evaluation to identify cytoplasmic vacuoles in myeloid and erythroid precursors. However, genetic confirmation of mutations in UBA1 is necessary. Treatment is challenging and often involves glucocorticoids and immunosuppressants with variable responses. Hypomethylating agents and allogenic haemopoietic stem cell transplant are considered promising therapies. Prognosis is influenced by genetic and clinical factors. The aim of this review is to provide an overview of the pathogenesis, clinical presentation, treatment, and prognosis of VEXAS syndrome for the Latin American medical community.(AU)

VEXAS syndrome: Clinical manifestations, diagnosis, and treatment.

VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is an adult-onset autoinflammatory syndrome characterized by somatic mutations in the UBA1 gene and is considered the prototype of hematoinflammatory diseases. Patients with VEXAS syndrome exhibit inflammatory and hematological manifestations that can lead to clinical diagnoses such as relapsing polychondritis, polyarteritis nodosa, Sweet syndrome, and myelodysplastic syndrome. Diagnosis requires bone marrow evaluation to identify cytoplasmic vacuoles in myeloid and erythroid precursors. However, genetic confirmation of mutations in UBA1 is necessary. Treatment is challenging and often involves glucocorticoids and immunosuppressants with variable responses. Hypomethylating agents and allogenic haemopoietic stem cell transplant are considered promising therapies. Prognosis is influenced by genetic and clinical factors. The aim of this review is to provide an overview of the pathogenesis, clinical presentation, treatment, and prognosis of VEXAS syndrome for the Latin American medical community.

French practical guidelines for the diagnosis and management of relapsing polychondritis.

Relapsing polychondritis is a rare systemic disease. It usually begins in middle-aged individuals. This diagnosis is mainly suggested in the presence of chondritis, i.e. inflammatory flares on the cartilage, in particular of the ears, nose or respiratory tract, and more rarely in the presence of other manifestations. The formal diagnosis of relapsing polychondritis cannot be established with certainty before the onset of chondritis, which can sometimes occur several years after the first signs. No laboratory test is specific of relapsing polychondritis, the diagnosis is usually based on clinical evidence and the elimination of differential diagnoses. Relapsing polychondritis is a long-lasting and often unpredictable disease, evolving in the form of relapses interspersed with periods of remission that can be very prolonged. Its management is not codified and depends on the nature of the patient's symptoms and association or not with myelodysplasia/vacuoles, E1 enzyme, X linked, autoinflammatory, somatic (VEXAS). Some minor forms can be treated with non-steroidal anti-inflammatory drugs, or a short course of corticosteroids with possibly a background treatment of colchicine. However, the treatment strategy is often based on the lowest possible dosage of corticosteroids combined with background treatment with conventional immunosuppressants (e.g. methotrexate, azathioprine, mycophenolate mofetil, rarely cyclophosphamide) or targeted therapies. Specific strategies are required if relapsing polychondritis is associated with myelodysplasia/VEXAS. Forms limited to the cartilage of the nose or ears have a good prognosis. Involvement of the cartilage of the respiratory tract, cardiovascular involvement, and association with myelodysplasia/VEXAS (more frequent in men over 50years of age) are detrimental to the prognosis of the disease.

Policondritis recidivante con traqueotomía permanente. A propósito de un caso

La policondritis recidivante es una enfermedad autoinmune, de etiología desconocida, infrecuente, caracterizada por lesiones inflamatorias recidivantes, afecta las estructuras cartilaginosas, el sistema cardiovascular y los órganos de los sentidos. Se presenta una paciente femenina de 31 años de edad, con antecedentes de trastornos menstruales, hipertensión arterial, diabetes mellitus, y colagenopatía en la familia. Que presenta un cuadro clínico que evoluciona desde dolores articulares hasta condritis nasal, auricular y traqueal, además de alteraciones vestibulococleares, lo que conllevan al diagnóstico de policondritis recidivante. Actualmente presenta una traqueotomía permanente y responde favorablemente al tratamiento.

Relapsing polychondritis is a rare autoimmune disease of unknown etiology, characterized by recurrent inflammatory lesions, which affects cartilaginous structures, the cardiovascular system and the sense organs. A 31-year-old female patient is presented, with a history of menstrual disorders, arterial hypertension, diabetes mellitus, and collagenosis in the family. Which presents a clinical picture that evolves from joint pain to nasal, auricular and tracheal chondritis, as well as vestibulocochlear alterations, which lead to the diagnosis of relapsing polychondritis. Nowadays has a permanent tracheostomy and is responding favorably to treatment.

Síndrome Magic: uma revisão bibliográfica / Magic Syndrome: a literature review

Introdução: Síndrome MAGIC, termo inglês utilizado para referir-se a uma síndrome composta de úlceras orais e genitais associadas a condrite, foi usado pela primeira vez em 1985 por Firestein et al para descrever cinco casos com características clínicas de policondrite recidivante (PR) e doença de behçet (DB). A policondrite recidivante e a doença de behçet são patologias inflamatórias, multissistêmicas, raras, de provável etiologia auto-imune. Ambas são diagnosticadas através de um conjunto de critérios bem definidos. Objetivo: Este trabalho tem como objetivo primário a realização de uma revisão bibliográfica sobre a síndrome MAGIC, tema este, ainda pouco conhecido na área da reumatologia. Metodologia: Para a realização desta revisão bibliográfica foram utilizadas plataformas de publicação científica de grande renome na área médica. A primeira foi a PubMed.gov, a qual é uma plataforma de busca da National Library of Medicine (NLM). Resultados e discussão: Foram utilizados como descritor o termo "magic syndrome" e selecionado o filtro temporal para que fossem mostrados apenas as publicações dos últimos 05 anos. Foram inclusos 05 arigos, dois deles eram uma associação entre relato de caso e revisão bibliográfica, um tratava-se apenas de uma revisão, outro tratava-se apenas de um relato de caso e, por último, um estudo observacional prospectivo associado também a uma revisão bibliográfica do tema. Conclusão: Nenhuma das cinco publicações avaliadas trazia novidades em relação a criação de critérios diagnósticos específicos para a síndrome, nem novidades também referentes ao tratamento.

Enfermedad de Behcet: Manifestaciones neurológicas y psiquiátricas observadas en dos pacientes en el Hospital Nacional Dos de Mayo (Lima, Perú) / Behcet disease: Neurological and psychiatric manifestations observed in two patients in the Dos de Mayo National Hospital (Lima, Perú)

RESUMEN Se describen las manifestaciones neurológicas y psiquiátricas de dos pacientes con características clínicas de la enfermedad de Behcet, observados a lo largo de varias décadas. Se ilustra con imágenes la presencia de aftas orales y genitales recidivantes. Uno de ellos desarrolló trombosis de la vena femoral y en ambos hubo presencia de eritema nodoso. La evaluación oftalmológica determinó ausencia de uveitis en ambos pacientes y ceguera por maculopatía distrófica monocular sin signos de vasculitis retinal en la paciente mujer. Exámenes de laboratorio en sangre y en el líquido cerebro espinal evidenciaron pleocitosis linfocítica. El test cutáneo de patergia fue negativo. Asimismo, se determinó la ausencia de hallazgos compatibles con otras enfermedades autoinmunes. Durante el periodo de evaluación se correlacionaron las manifestaciones clínicas y los hallazgos en tomografía (TM) y resonancia magnética cerebral (RMC). Se explica igualmente la mielitis recidivante y su correlato con los resultados de la resonancia magnética medular (RMM). El tiempo de evaluación y seguimiento por consulta externa y durante la hospitalización en el paciente varón (73 años), que inició la enfermedad a los 35 años, fue de 34 años; la paciente mujer (50 años, inició su enfermedad a los 28 años y fue seguida por espacio de 8 años. Este proceso permitió comprender los diferentes factores mórbidos que influyeron en la grave evolución del cuadro clínico estudiado.

SUMMARY The neurological and psychiatric manifestations in two patients who met clinical criteria of Behcet's disease are observed and described throughout several decades. The presence of recurrent oral and genital canker sores is illustrated with images. One of the patients developed thrombosis of the femoral vein, and erythema nodosus was present in both. The ophthalmological evaluation showed absence of uveitis in both patients, and blindness by adult monocular dystrophic maculopathy without signs of retinal vasculitis in the female. Laboratory tests on blood and cerebrospinal fluid evidenced lymphocytic pleocytosis. The patergia skin test was negative. Likewise, laboratory tests determined an absence of findings compatible with other autoimmune diseases. Throughout the evaluation period, the clinical manifestations were correlated with the findings from tomography and brain magnetic resonance magnetic. Similarly, recurrent myelitis and its correlation with the results of medular magnetic resonance imaging are explained. The evaluation and follow-up period through outpatient consultation and hospitalization was prolonged: the 73-year-old male patient, who started the disease at age 35, was followed-up for 34 years; and the 50-year-old female patient, fell ill at the age of 28 and was followed-up for 8 years. This process allowed the understanding of the different morbid factors that influenced the serious evolution of the clinical picture.

Atypical and severe presentation of autoimmune polyglandular syndrome type 2 / Presentación grave y atípica de un síndrome autoinmune poliglandular tipo 2

Background: Recurrent pericarditis has been described as an unusual manifestation of autoimmune polyglandular syndrome type 2 (APS 2). Case report: We describe a case of a 44-year-old woman who was admitted to hospital due to 5 pericarditis, 3 of them with cardiac tamponade, and in the etiological study of this pathology she was diagnosed with an APS 2. Conclusion: The association of serositis with APS 2 is exceptional with less than 10 cases reported in the literature. The presence of recurrent pericarditis of unknown cause should make us consider APS 2 in the differential diagnosis. (AU)

Introducción: La pericarditis recidivante se ha descrito como una manifestación poco frecuente del síndrome poliglandular autoinmune tipo 2 (APS 2). Caso clínico: Presentamos el caso de una mujer de 44 años que ingresa en el hospital debido a 5 pericarditis, 3 de ellas con taponamiento cardiaco, y en el estudio etiológico de dicha patología se diagnostica un APS 2. Conclusión: La asociación de serositis con el APS 2 es excepcional, con menos de 10 casos publicados en la literatura. La presencia de pericarditis de casusa desconocida debe hacernos considerar el APS 2 en el diagnóstico diferencial. (AU)

[Recurrent acute fatty liver of pregnancy: About a case and a review of the literature]. / La stéatose hépatique aiguë gravidique récidivante : à propos d'un cas et une revue de la littérature.

Acute fatty liver of pregnancy (AFLP) is a specific but rare hepatopathy that can usually complicate the third trimester of pregnancy. It is potentially fatal for the mother and the fetus. To our knowledge, only eight cases of recurrence have been published, we report a new case. The first episode presented by our 23-year-old patient was suspected in front of a cutaneous-mucosal jaundice with vomiting occurring on pregnancy of 35weeks of gestation (WG). Hyperleucytosis, abnormalities of the hepatic balance, as well as a hypoglycemia were biological elements supporting the diagnostic beam. On the other hand, medical imaging could not bring a clear confirmation. The evolution was favorable after deferred delivery by caesarean section for pulmonary maturation. Three years later, she presented to the obstetrical emergency room at 36weeks and six days of gestation, with a clinical and biological picture almost similar to that of the first episode. A caesarean section was then indicated for suspicion of recurrence. The evolution is favorable for the mother and her children. The interest of the communication on the risk of recurrence, the clinical and biological monitoring in particular in the third trimester of the subsequent pregnancy are imperative, in order to improve the prognosis of this pathology.

Efectos del enriquecimiento ambiental en la recuperación de la adicción: ni enfermedad, ni crónica ni recidivante / Effects of environmental enrichment on recovery from addiction: no disease, no chronic and no relapse

En el presente trabajo se analizan de manera crítica los axiomas sobre los que se apoya el modelode enfermedad cerebral de la adicción: i) es una enfermedad, ii) está determinada genéticamente,iii) se desarrolla irremediablemente por las drogas, iv) se explica por el valor que se otorga a larecompensa, y v) se mantiene por evitación de la abstinencia. Se sostiene que, a la luz de loshallazgos científicos y bajo el prisma del sentido común, cada uno de sus axiomas resulta falsable. Sediscute sobre la idea -habitualmente sostenida- de que autoadministrarse droga, comer un excesode comidas palatables o jugar persistentemente a videojuegos produce una enfermedad incurableen las personas porque sus cerebros sufren cambios irreversibles tras la ejecución repetida delhábito. Posteriormente, se deconstruye la definición clásica de la adicción como enfermedadcrónica y recidivante analizando los datos epidemiológicos sobre la supuesta cronicidad y recidiva,aportando evidencias de la recuperación como, de hecho, el curso espontáneo más probable.Finalmente, y como hilo conductor de todo el trabajo, se propone el enriquecimiento ambientalcomo enfoque terapeútico y precursor del cambio de paradigma. Se concluye aportando ideassobre la necesidad de construir un mejor modelo biopsicosocial que optimice sustancialmente larespuesta asistencial que se ofrece a las personas que han desarrollado una adicción. (AU)

This paper critically analyses the axioms on which the brain disease model of addiction rests:i) it is a disease, ii) it is genetically determined, iii) it is irretrievably developed by drugs, iv) itis explained by the value placed on reward, and v) it is maintained by abstinence avoidance. Itis argued that, in the light of scientific findings and under the prism of common sense, each ofits axioms is falsifiable. The commonly held idea that self-administering drugs, eating an excessof palatable foods or persistently playing video games produces an incurable disease in peoplebecause their brains undergo irreversible changes after repeated performance of the habit isdiscussed. Subsequently, the classical definition of addiction as a chronic and relapsing diseaseis deconstructed by analysing the epidemiological data on the supposed chronicity and relapse,providing evidence of recovery as, in fact, the most probable spontaneous course. Finally, andas a common thread throughout the paper, environmental enrichment is proposed as a therapeutic approach and a precursor of the paradigm shift. It concludes with ideas on the need tobuild a better biopsychosocial model that substantially optimises the care response offered topeople who have developed an addiction. (AU)

Effects of environmental enrichment on recovery from addiction: no disease, no chronic and no relapse / Efectos del enriquecimiento ambiental en la recuperación de la adicción: ni enfermedad, ni crónica ni recidivante

This paper critically analyses the axioms on which the brain disease model of addiction rests:i) it is a disease, ii) it is genetically determined, iii) it is irretrievably developed by drugs, iv) itis explained by the value placed on reward, and v) it is maintained by abstinence avoidance. Itis argued that, in the light of scientific findings and under the prism of common sense, each ofits axioms is falsifiable. The commonly held idea that self-administering drugs, eating an excessof palatable foods or persistently playing video games produces an incurable disease in peoplebecause their brains undergo irreversible changes after repeated performance of the habit isdiscussed. Subsequently, the classical definition of addiction as a chronic and relapsing diseaseis deconstructed by analysing the epidemiological data on the supposed chronicity and relapse,providing evidence of recovery as, in fact, the most probable spontaneous course. Finally, andas a common thread throughout the paper, environmental enrichment is proposed as a therapeutic approach and a precursor of the paradigm shift. It concludes with ideas on the need tobuild a better biopsychosocial model that substantially optimises the care response offered topeople who have developed an addiction. (AU)

En el presente trabajo se analizan de manera crítica los axiomas sobre los que se apoya el modelode enfermedad cerebral de la adicción: i) es una enfermedad, ii) está determinada genéticamente,iii) se desarrolla irremediablemente por las drogas, iv) se explica por el valor que se otorga a larecompensa, y v) se mantiene por evitación de la abstinencia. Se sostiene que, a la luz de loshallazgos científicos y bajo el prisma del sentido común, cada uno de sus axiomas resulta falsable. Sediscute sobre la idea -habitualmente sostenida- de que autoadministrarse droga, comer un excesode comidas palatables o jugar persistentemente a videojuegos produce una enfermedad incurableen las personas porque sus cerebros sufren cambios irreversibles tras la ejecución repetida delhábito. Posteriormente, se deconstruye la definición clásica de la adicción como enfermedadcrónica y recidivante analizando los datos epidemiológicos sobre la supuesta cronicidad y recidiva,aportando evidencias de la recuperación como, de hecho, el curso espontáneo más probable.Finalmente, y como hilo conductor de todo el trabajo, se propone el enriquecimiento ambientalcomo enfoque terapeútico y precursor del cambio de paradigma. Se concluye aportando ideassobre la necesidad de construir un mejor modelo biopsicosocial que optimice sustancialmente larespuesta asistencial que se ofrece a las personas que han desarrollado una adicción. (AU)

Resultado de tratamiento quirúrgico de la luxación recidivante de rótula mediante la técnica de Campbell / Result of surgical treatment of recurrent patella dislocation using the Campbell technique

Resumen: Introducción: La luxación recidivante de rótula es una condición en la cual no se mantiene la congruencia de la superficie de la rótula en su desplazamiento sobre el surco intercondíleo del fémur en los movimientos de flexoextensión de la rodilla. Los objetivos del trabajo son: mostrar la distribución de pacientes con luxación recidivante de rótula según diferentes variables sociodemográficas y evaluar los resultados con el uso de la técnica de Campbell. Material y métodos: Se llevó a cabo un estudio observacional en pacientes con luxación recidivante de rótula, en el período de Diciembre de 2017 a Diciembre de 2019. La recolección de datos se realizó con la revisión de las historias clínicas. La muestra fue de 19 pacientes, para la evaluación de la técnica quirúrgica se utilizó el sistema propuesto por los autores. El procesamiento de la información incluyó el cálculo de medidas de resumen para variables cualitativas, frecuencias absolutas y porcentajes. Resultados: El sexo femenino y el grupo de edad de 15 a 30 años fueron los más frecuentes, la cicatrización fue mala en dos pacientes. Se obtuvieron buenos resultados en 84.3% de los pacientes operados. Conclusiones: Predominó el sexo femenino y el grupo de 15 a 30 años, la cicatrización fue mala en dos pacientes. Se obtuvieron buenos resultados en los pacientes operados. A pesar de que la mayoría de los autores recomiendan la reparación del ligamento patelofemoral medial como técnica de elección o la técnica de Insall, la técnica de Campbell arroja buenos resultados cuando se aplica a luxación recidivante de rótula que necesita realineación proximal del mecanismo extensor.

Abstract: Introduction: the recurrent dislocation of the patella is a condition in which the congruence of the surface of the patella is not maintained in its displacement on the intercondyleal groove of the femur in the flexo-extension movements of the knee. The objectives of the study are: to show the distribution of patients with recurrent dislocation of patella according to different socio-demographic variables and to evaluate the results with the use of campbell's technique. Material and methods: An observational study was conducted in patients with recurrent patella dislocation in the period from December 2017 December 2019. Data collection was carried out with the review of medical records. The sample was 19 patients, the evaluation of the surgical technique was used the system proposed by the authors. Information processing included the calculation of summary measures for qualitative variables, absolute frequencies and percentages. Results: The female sex and the age group of 15 to 30 years were the most frequent, healing was poor in two patients, good results were obtained in 84.3% of the operated patients. Conclusions: Predominance of the female sex and the group of 15 to 30 years, the healing was bad in two patients, good results were obtained in the operated patients. Although most authors recommend medial patello-femoral ligament repair as a technique of choice or the Insall technique, Campbell's technique yields good results when applied to recurrent patella dislocation that need proximal realignment of the extensor mechanism.

Serum YKL-40 levels in patients with multiple sclerosis / Níveis séricos de YKL-40 em pacientes com esclerose múltipla

ABSTRACT Background: Multiple sclerosis (MS) is a chronic inflammatory disease affecting the central nervous system. The YKL-40 protein, which is secreted from various cells that contribute to inflammation and infection, plays a role in immune regulation. Objective: This study investigated the serum YKL-40 levels of patients with clinically isolated syndrome (CIS) and MS. Methods: The participants was divided into three groups: 1) patients with CIS (n = 20); 2) patients with relapsing-remitting MS (RRMS; n = 39); and 3) healthy individuals (n = 35). The YKL-40 levels in serum samples obtained from the participants were measured using enzyme-linked immunoassays. Results: The median serum YKL-40 level was 20.2 ng/mL (range 9.8-75.9 ng/mL) in the patients with CIS, 22.7 ng/mL (range 13.4-57.9 ng/mL) in the patients with RRMS and 11.0 ng/mL (range 10.0-17.3 ng/mL) in the control group (p < 0.001). The serum YKL-40 levels in the patients with RRMS were correlated with the patients' expanded disability status scale scores and ages (p < 0.05). No relationships were determined between the serum YKL-40 levels and the other variables (p > 0.05). The serum YKL-40 levels were higher in the CIS group than in the MS group. These findings show that the serum YKL-40 levels were high even at the beginning of the disease. The serum YKL-40 levels were also not involved in the progression to clinically definite MS. Conclusions: The findings from this study suggested that YKL-40 may be a useful marker for the inflammatory process of MS.

RESUMO Contexto: A Esclerose Múltipla (EM) é uma doença inflamatória crônica que afeta o sistema nervoso central. A proteína UKL-40, secretada de várias células que participam de processos inflamatórios e infecciosos, desempenha um importante papel na regulação imunológica. Objetivo: Este estudo investigou níveis séricos de YKL-40 em pacientes com Síndrome Clinicamente Isolada (SCI) e EM. Métodos: Os participantes foram divididos em três grupos: 1) pacientes com SCI (n = 20); 2) pacientes com EM recorrente-remitente (EMRR; n = 39); e 3) indivíduos saudáveis (n = 35). Os níveis de YKL-40 em amostras séricas obtidas dos participantes foram medidos usando-se imunoensaios ligados a enzimas. Resultados: O nível sérico médio de YKL-40 foi 20.2 ng/mL (range 9.8-75.9 ng/mL) em pacientes com CIS, 22.7 ng/mL (intervalo entre 13.4-57.9 ng/mL) em pacientes com EMRR e 11.0 ng/mL (intervalo entre 10.0-17.3 ng/mL) no grupo controle (p < 0.001). Os níveis séricos de YKL-40 em pacientes com EMRR estavam correlacionados às pontuações e idades dos pacientes na EDSS (p < 0.05). Não foram determinadas relações entre os níveis séricos de YKL-40 e outras variáveis (p > 0.05). Os níveis séricos de YKL-40 no grupo SCI estavam mais elevados do que no grupo EM. Estes resultados demonstram que os níveis séricos de YKL-40 estavam mais elevados até mesmo no início da doença. Os níveis séricos de YKL-40 também não estavam associados à progressão da EM clinicamente definida. Conclusões: A partir deste estudo, os resultados sugeriram que a proteína YKL-40 pode ser um indicador útil no processo inflamatório da EM.

[Spontaneous periodic hypothermia syndrome: A systematic review of the literature]. / Syndrome d'hypothermie périodique spontanée : une revue systématique de la littérature.

INTRODUCTION: Periodic spontaneous hypothermia syndrome (PSHS), also known as hypersudation-hypothermia syndrome, is a rare condition characterised by the occurrence of paroxysmal attacks of spontaneous hypothermia occurring without age limit. Few studies have attempted to synthesise the available data on PSHS. The objective of this study was to summarize the literature on this condition. METHODS: A literature review was conducted using the Pubmed and ScienceDirect databases. Cases from a registry of PSHS initiated at the CHU of Saint-Étienne were added to the analysis. For each clinical case, clinical, biological and morphological data as well as therapeutic management and evolution were collected. RESULTS: Seventy-one cases of PSHS were collected. The median age at symptom onset was 21.5 years. The clinical sign most frequently associated with hypothermia was the presence of hyperhidrosis. The triad of hypothermia-hypersudation-agenesis of the corpus callosum was present in 35.7% of cases. CONCLUSION: PSHS remains a poorly known cause of hypothermia, without consensual therapeutic options. The need to better describe cases and obtain more long-term data will allow a better definition and knowledge of this syndrome.

Tratamento cirúrgico de luxação recidivante da mandíbula: relato de caso / Surgical treatment of recurrent mandible luxation: case report

Introdução: A articulação temporomandibular (ATM) é uma estrutura especializada e excepcional, relacionada com funções estomatognáticas e propensa à disfunções associadas ao sistema maxilo-mandibular. Dentre essas alterações, a luxação é uma entidade patológica importante. Possui patogênese multifatorial e pode se manifestar de modo recidivante. Diversos tratamentos são propostos, dentre eles, a criação de anteparos aloplásticos. Paciente do sexo feminino, 22 anos com história de luxação mandibular recidivante com sintomatologia congruente ao quadro. Realizou-se tratamento cirúrgico com instalação de miniplacas de titânio do sistema 2.0 mm em forma de duplo T com curvatura de aproximadamente 90°, na região de eminencia articular. Após 1 ano e 6 meses, a paciente segue assintomática, sem lesões nervosas e sem luxações. A luxação da ATM é um quadro clínico angustiante, sendo a segunda luxação mais frequente e incidente em mulheres. Caracteriza-se por: incapacidade de fechar a boca, depressão cutânea pré-auricular, ptialismo e musculatura mastigatória tensa. A paciente apresentava severas luxações recidivantes, juntamente com ansiedade e angústia social. A utilização de placas evitou a hiperexcussão e remissão do quadro. É um procedimento menos agressivo e reversível. A técnica utilizada demonstrou bom prognóstico e, dentre as opções cirúrgicas, é uma técnica mais conservadora... (AU)

Introduction: TMJ dislocation is a multifactorial joint pathology that occurs when the mandibular condyle exceeds the articular eminence and cannot return to its original anatomical position, making it impossible for the patient to close the mouth. A 22-year-old female patient complaining of succes sive episodes of mandibular dislocation, characterizing the condition of dislocation redicivant TMJ. Surgical treatment was performed with the installation of 2.0 mm double T-shaped titanium miniplates with approximately 90° curvature in the region of articular eminence. After 8 months, the patient has no complaints, no signs of facial nerve damage and no episodes of dislocation. TMJ dislocation is a socially and psychologically distressing clinical condition, being the second most frequent dislocation in the body and with higher incidence in female patients. Key features are inability to close the mouth, pre auricular cutaneous depression, excessive salivation, and tense and spasmodic masticatory muscles. In this case, the patient presented severe relapsing dislocations, along with anxiety and social anguish. The use of plates acts as a mechanical barrier for condylar movements, avoiding hyperexcussion, being a less aggressive and reversible procedure, having only the disadvantage of the possibility of plate frac ture. The technique used with the objective of limiting condyle movement, among the surgical options, is a more conservative technique... (AU)

[Recurrent meningitis revealing a Bing-Neel syndrome]. / Méningite récidivante révélant un syndrome de Bing-Neel.

INTRODUCTION: Bing-Neel syndrome is a rare complication of Waldenström macroglobulinemia, defined by monoclonal lymphoplasmocytic cells in the cerebrospinal fluid or in central nervous system biopsy. CASE REPORT: We report a 47-year-old man, with no prior history, who presented a recurrent aseptic lymphocytic meningitis with central nervous manifestations. The presence of a monoclonal lymphoplasmacytic proliferation in cerebrospinal fluid, blood and bone marrow biopsy results was compatible with a diagnosis of Bing-Neel syndrome. Despite the absence of any specific treatment, there was no recurrence of symptoms at 4-month follow-up, and the MRI lesions remained stable. CONCLUSION: We report a case of Bing-Neel syndrome revealed by a recurrent meningitis. Outcome without treatment was favorable at 4-month follow-up.

[Peritoneal dialysis catheter sterilization by urokinase administration in case of relapsing peritonitis: About four observations]. / Stérilisation du cathéter de dialyse péritonéale en cas de péritonite récidivante : intérêt de l'administration d'urokinase. À propos de quatre observations.

The presence of a biofilm within the peritoneal dialysis catheter where bacteria are encapsulated, protected from the action of antibiotics and insidiously liberated within the dialysate, best explains the relapse of the infectious peritonitis, when antibiotics are withdrawn. We here report a serie of four clinical cases in whom the administration of urokinase within the peritoneal catheter in addition to the current antibiotherapy, has cured relapsing peritonitis due to Staphylococcus epidermidis in two cases, Acinetobacterjohnsonii in one case and Staphylococcus haemolyticus in one case, respectively. This approach, safe and easy, allowed the infection eradication and did prevent a catheter removal and a potential transfer of the patients to hemodialysis.

Benefits of a collagen membrane for recurrent ulnar nerve entrapment at the elbow: A series of 40 cases.

The rate of failure or recurrence after ulnar nerve release at the elbow is up to 25%. Various biomaterials have been developed to protect nerves from postoperative adhesions. The aim of this study was to review a case series of 40 surgical revision procedures of the ulnar nerve at the elbow, protected by a collagen membrane (Cova™ ORTHO). Forty patients who had this revision surgery between January 2013 and December 2017 were reviewed: 34 were evaluated in person, 6 were evaluated over the phone. The operation consisted in release of the ulnar nerve, anterior subcutaneous transposition and nerve protection using a collagen membrane. We assessed the following parameters with an average follow-up of 4 years and 3 months: paresthesia, night awakening, quality of life (QuickDASH score) and neuropathic pain (DN4 questionnaire). The outcome was determined with the Gabel & Amadio score. The patients' satisfaction was evaluated. A significant decrease in paresthesia and night awakening was found (p < 0.05). The average Gabel & Amadio score improved from 4.4 to 6.7 with 5 excellent, 19 good, 9 fair, and 1 poor result. The average DN4 was 5/10 and the QuickDASH score was 40.1. Eighty percent of patients were satisfied or very satisfied with the outcome. Surgical revision of the ulnar nerve at the elbow remains a delicate operation without a gold standard. This case series found good or excellent results in 70% of patients. Surgical revision of the ulnar nerve with a collagen membrane is a reliable alternative among other possibilities for ulnar nerve release at the elbow.

Cladribina oral para o tratamento da esclerose múltipla remitente-recorrente altamente ativa: análise de impacto orçamentário sob a perspectiva do sistema brasileiro de saúde suplementar / Cladribine tablets for the treatment of highly active recurrent multiple sclerosis: budget impact analysis from the perspective of the Brazilian supplementary health system

Objetivo: Avaliar o impacto orçamentário da inclusão da cladribina oral no tratamento de esclerose múltipla remitente-recorrente em alta atividade da doença (EMRR HDA) no Sistema de Saúde Suplementar (SSS). Métodos: Foi conduzida uma análise de impacto orçamentário, sob a perspectiva do SSS, com horizonte temporal de quatro anos, considerando a abordagem de coorte aberta na qual o número de pacientes elegíveis para tratamento varia em cada ano com a introdução de novos pacientes diagnosticados de EMRR HDA e a retirada de indivíduos prevalentes devido a morte ou progressão secundária. Foram considerados custos médicos diretos, incluindo a aquisição e administração de medicamentos, monitoramento, eventos adversos e surtos. Os comparadores utilizados na análise foram: alentuzumabe, fingolimode, natalizumabe e ocrelizumabe. Os custos foram apresentados em real brasileiro (BRL). Resultados: O custo incremental da inclusão da cladribina oral para o SSS foi estimado em 463.265 BRL, 739.691 BRL, -1.414.963 BRL, -3.719.007 BRL, nos anos 1, 2, 3 e 4, respectivamente. Isso resultou em um custo incremental total de -3.931.015 BRL no período analisado, representando 1,5% da redução orçamentária total no tratamento de EMRR HDA. Conclusão: A inclusão da cladribina oral para o tratamento de pacientes com diagnóstico de EMRR HDA poderia gerar uma economia substancial para o sistema brasileiro de saúde suplementar, atingindo um valor de cerca de 3,9 milhões de BRL em um período de quatro anos

Objective: To evaluate the budget impact of adopting cladribine tablets as a treatment strategy for relapsing remitting multiple sclerosis with high disease activity (RRMS HDA), from the Brazilian private healthcare system perspective. Methods: A budget impact analysis, under private healthcare system perspective, with a 4-years time horizon was conducted, considering the open cohort approach in which the number of patients eligible for treatment varies each year with the introduction of newly diagnosed RRMS HDA patients and the drop out of prevalent individuals due to death or secondary progression. Direct medical costs, including acquisition, drug administration, monitoring, adverse events and relapses were considered. Comparators used in the analysis were: alentuzumab, fingolimod, natalizumab and ocrelizumab. Costs were presented in Brazilian real (BRL). Results: The incremental cost of incorporating cladribine tablets into the private healthcare system was estimated at 463,265BRL, 739,961BRL, -1,414,963 BRL, -3,716,007 BRL, in years 1, 2, 3 and 4, respectively. This resulted in a total incremental cost of -3,931,015 BRL over the period analyzed, representing 1.5% of the total budget reduction in the treatment of RRMS HDA. Conclusion: Incorporation of cladribine tablets for the management of RRMS HDA could generate substantial savings for the private healthcare system, reaching a value of approximately 3.9 million BRL in a 4-years period

Uso de bleomicina en el manejo del derrame pleural recidivante maligno / Bleomycin in the management of malignant recurrent pleural effusion

Introducción: El derrame pleural recidivante maligno se reproduce en breve tiempo y requiere el diagnóstico etiológico positivo de malignidad, la etiología más frecuente es el cáncer de pulmón. La pleurodesis química es el tratamiento de elección con la aplicación intrapleural de sustancias sinfisiantes. Objetivo: Describir la respuesta clínica y radiológica de los enfermos con derrame pleural recidivante maligno con el uso de bleomicina. Método: Estudio observacional comparativo en 30 pacientes con derrame pleural recidivante maligno divididos en dos grupos, en uno se aplicó la bleomicina intrapleural y al otro yodo povidona. Resultado: El 33,3 por ciento fueron del sexo masculino, 60 por ciento perteneció al grupo de edades de 60-69 años. El grupo tratado con bleomicina presentó una respuesta clínica favorable en los síntomas, p<0,005 después de la pleurodesis. En la evaluación de la respuesta radiológica, 66,6 por ciento pacientes tratados con la bleomicina tuvieron una resolución completa. Conclusiones: Se logró una buena respuesta clínica-radiológica con la pleurodesis química similar entre ambas modalidades de tratamiento. Se obtuvieron mejores resultados y menos reacciones adversas con la bleomicina intrapleural(AU)

Introduction: The malignant recurrent pleural effusion reproduces in short time and it requires a positive etiological diagnosis of malignancy, the most frequent etiology is lung cancer. Chemical pleurodesis is the treatment of choice with the intrapleural application of symphysiating substances. Objective: To describe the clinical and radiological response of patients with malignant recurrent pleural effusion with the use of bleomycin. Method: A comparative observational study in 30 patients with recurrent malignant pleural effusion was carried out. They were divided into two groups, one used intrapleural bleomycin and the other group used povidone iodine. Result: 33.3 percent were male, 60 percent belonged to the 60-69 age group. The group treated with bleomycin presented favorable clinical response in symptoms, p <0.005 after pleurodesis. At the evaluation of the radiological response, 66.6 percent patients treated with bleomycin had a complete resolution. Conclusions: Good clinical-radiological response was achieved with similar chemical pleurodesis between both treatment modalities. Better results and fewer adverse reactions were obtained with intrapleural bleomycin(AU)

Differentiation of relapsing-remitting and secondary progressive multiple sclerosis: a magnetic resonance spectroscopy study based on machine learning / Diferenciação de esclerose múltipla recorrente-remitente e progressiva secundária: um estudo de ressonância magnética com espectroscopia baseado em aprendizado de máquina

ABSTRACT Introduction: Magnetic resonance imaging (MRI) is the most important tool for diagnosis and follow-up in multiple sclerosis (MS). The discrimination of relapsing-remitting MS (RRMS) from secondary progressive MS (SPMS) is clinically difficult, and developing the proposal presented in this study would contribute to the process. Objective: This study aimed to ensure the automatic classification of healthy controls, RRMS, and SPMS by using MR spectroscopy and machine learning methods. Methods: MR spectroscopy (MRS) was performed on a total of 91 participants, distributed into healthy controls (n=30), RRMS (n=36), and SPMS (n=25). Firstly, MRS metabolites were identified using signal processing techniques. Secondly, feature extraction was performed based on MRS Spectra. N-acetylaspartate (NAA) was the most significant metabolite in differentiating MS types. Lastly, binary classifications (healthy controls-RRMS and RRMS-SPMS) were carried out according to features obtained by the Support Vector Machine algorithm. Results: RRMS cases were differentiated from healthy controls with 85% accuracy, 90.91% sensitivity, and 77.78% specificity. RRMS and SPMS were classified with 83.33% accuracy, 81.81% sensitivity, and 85.71% specificity. Conclusions: A combined analysis of MRS and computer-aided diagnosis may be useful as a complementary imaging technique to determine MS types.

RESUMO Introdução: A ressonância magnética é a ferramenta mais importante para o diagnóstico e acompanhamento na EM. A transição da EM recorrente-remitente (EMRR) para a EM progressiva secundária (EMPS) é clinicamente difícil e seria importante desenvolver a proposta apresentada neste estudo a fim de contribuir com o processo. Objetivo: o objetivo deste estudo foi garantir a classificação automática de grupo controle saudável, EMRR e EMPS usando a RM com espectroscopia e métodos de aprendizado de máquina. Métodos: Os exames de RM com espectroscopia foram realizados em um total de 91 amostras com grupo controle saudável (n=30), EMRR (n=36) e EMPS (n=25). Em primeiro lugar, os metabólitos da RM com espectroscopia foram identificados usando técnicas de processamento de sinal. Em segundo lugar, a extração de recursos foi realizada a partir do MRS Spectra. O NAA foi determinado como o metabólito mais significativo na diferenciação dos tipos de MS. Por fim, as classificações binárias (Healthy Control Group-RRMS e RRMS-SPMS) foram realizadas de acordo com as características obtidas por meio do algoritmo Support Vector Machine. Resultados: Os casos de EMRR e do grupo de controle saudável foram diferenciados entre si com 85% de acerto, 90,91% de sensibilidade e 77,78% de especificidade, respectivamente. A EMRR e a EMPS foram classificadas com 83,33% de acurácia, 81,81% de sensibilidade e 85,71% de especificidade, respectivamente. Conclusões: Uma análise combinada de RM com espectroscopia e abordagem de diagnóstico auxiliado por computador pode ser útil como uma técnica de imagem complementar na determinação dos tipos de EM.