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Pregnancy and lactation-associated osteoporosis (PLO) is a rare disease that occurs in late pregnancy or early postpartum and is associated with multiple vertebral fractures. We present a case of a 34-year-old woman with a history of Systemic Lupus Erythematosus and Antiphospholipid Syndrome, who started postpartum back pain. After an ineffective response to analgesic escalation, she performed imaging exams with evidence of multiple dorsal and lumbar vertebral fractures. After an exhaustive etiological study, PLO represented the most likely diagnosis. Early diagnosis, interruption of breastfeeding, and initiation of targeted anti-osteoporotic therapy are essential for symptomatic control, increase the quality of life of these patients, and prevent new fractures in the future.
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Lupus Eritematoso Sistémico , Osteoporosis , Complicaciones del Embarazo , Femenino , Humanos , Embarazo , Adulto , Lactancia Materna , Calidad de Vida , Densidad Ósea , Lupus Eritematoso Sistémico/complicaciones , Osteoporosis/complicaciones , LactanciaRESUMEN
Patients older than 75 years old with multiple myeloma (MM) have shorter survival and are usually treated differently from what features in clinical trials. In this study, the authors characterized the Portuguese population of MM patients above 75 years old, treated between 2009 and 2016. We compared the outcomes obtained with bortezomib-based protocols (BBP), thalidomide-based protocols (TBP), and chemotherapy (CT) using univariate and multivariate controlling for age, performance status, International Staging System score, renal impairment, and number of comorbidities. We retrieved data from 386 patients, treated in 12 hospitals. Three hundred thirty-one cases were analyzed: 119 patients treated with BBP, 65 with TBP, 147 with CT. Median age was 79 years; CT-treated patients were older, had a worse performance status, and have more comorbidities. The median follow-up was 25 months. The 2-year OS was 58% and the median OS was 29.5 months. Patients treated with BBP had more frequently very good partial response (VGPR) or better response, and the subgroup of more fit patients had a significantly longer progression-free survival (PFS) and OS. The most frequently grade 3-4 toxicities were hematologic, infectious, and neurologic and were significantly lower in TBP and CT groups vs BBP. The most common second line was CT, followed by lenalidomide. Patients treated with lenalidomide had a higher probability of VGPR or better and a superior 1-year PFS. Despite the limitations of a retrospective study, our cohort represents the reality of older patients with MM in a western country. The hazard of death or progression was higher for old, fit patients treated, in first line, with CT and with TBP compared with that of BBP.
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Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Mieloma Múltiple , Anciano , Anciano de 80 o más Años , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Supervivencia sin Enfermedad , Femenino , Estudios de Seguimiento , Humanos , Masculino , Mieloma Múltiple/tratamiento farmacológico , Mieloma Múltiple/mortalidad , Mieloma Múltiple/patología , Estadificación de Neoplasias , Portugal/epidemiología , Tasa de SupervivenciaRESUMEN
BACKGROUND: Hypertrophic pachymeningitis (HP) is characterized by cranial and/or spinal thickening of the dura mater with or without associated inflammation. Neuroimaging studies reveal dura mater thickening and focal or diffuse contrast enhancement. It is described in association with trauma, infections, tumors, autoimmune/inflammatory diseases, and cerebrospinal fluid hypotension syndrome, with some cases remaining idiopathic. METHODS: A retrospective study was conducted with patients' identification through a key terms search within MRI reports in the period of July 2008 to September 2015. Clinical files, MRI, laboratory, and pathology data were reviewed. RESULTS: Fifty-three patients were identified and 20 were excluded because they did not meet the inclusion criteria. Of the 33 included, 19 were female, with a mean age at symptoms onset of 51.2 ± 17.6 years. The most common presenting symptoms were headache and cranial nerves palsy, followed by seizures, delirium, lumbar pain, cognitive decline, motor deficit, and language impairment. In 17 patients, a neoplastic etiology was identified; in eight, inflammatory/autoimmune; in six, infectious; and two were classified as idiopathic. Of the eight patients with inflammatory/autoimmune etiology, four had possible IgG4-related disease (IgG4-RD) and the remaining had granulomatosis with polyangiitis, sarcoidosis, rheumatoid arthritis, and Tolosa-Hunt syndrome. Treatment was directed according to the underlying etiology. DISCUSSION: In the described series, a female predominance was identified, with symptoms' onset in the 5th decade. Although headache was the most common symptom, clinical presentation was varied, emphasizing the role of MRI in HP diagnosis. The underlying etiologies were diverse, with only a few cases remaining idiopathic, also reflecting the contribution of the recently described IgG4-RD.
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Encefalitis/etiología , Imagen por Resonancia Magnética , Meningitis/diagnóstico por imagen , Adulto , Anciano , Anciano de 80 o más Años , Diagnóstico Diferencial , Encefalitis/diagnóstico por imagen , Femenino , Encuestas Epidemiológicas , Humanos , Hipertrofia/complicaciones , Procesamiento de Imagen Asistido por Computador , Masculino , Meningitis/complicaciones , Persona de Mediana Edad , Estudios RetrospectivosRESUMEN
OBJECTIVES: Eosinophilic fasciitis (EF) was described in 1974 by Shulman as a rare fibrosing connective tissue disease of unknown etiology. An undetermined trigger is thought to lead to the degranulation of eosinophils that interact with fibroblasts and express fibrogenic cytokines including the transforming factor of tumor growth a and b and interleukins 1 and 6. The purpose of this study was to summarize seven cases of EF in a central hospital. MATERIAL AND METHODS: This was a retrospective and descriptive study of a population with EF of a central hospital. All patients diagnosed with EF in a hospital unit were admitted to the study between January 1, 2005, and April 30, 2018. RESULTS: A total of seven patients diagnosed with EF were analyzed. The median age of the population at the time of diagnosis was 56 years, and 57% of the patients were women. All patients had elevated peripheral eosinophilia and sedimentation rate, and only one patient had hypergammaglobulinemia. All patients had edema and cutaneous thickening of the limbs, 57% had constitutional symptoms, and 57% had inflammatory arthritis with joint contracture. Prednisolone (PDN) therapy was initiated in all patients, and only in two was the association of PDN with methotrexate (MTX) initially performed. In one patient triple therapy of PDN, MTX, and cyclosporine was required. At the time of this publication, only one patient maintains active disease, and tocilizumab has been initiated. CONCLUSIONS: Recent studies show a more favorable response from the combination of PDN and MTX than from PDN alone. Considering the rarity of the disease, more long-term studies are needed regarding the etiopathogenetics, progression, recurrence of EF, and new effective therapies.
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We report an atypical case of Rhodotorula mucilaginosa fungemia coexisting with pleural tuberculosis, in an immunocompetent host. The patient was an inhaled drug abuser and worked in a fruit market. The diagnosis of Rhodotorula mucilaginosa infection was established by the isolation of the yeast in two blood cultures followed by a good response to amphotericin B treatment. Persistent evening fever and pleural effusion led to the second diagnosis-pleural tuberculosis. In the last 5 years, this was the only case of Rhodotorula mucilaginosa fungemia in our hospital and the first case in the literature that documents Rhodotorula mucilaginosa fungemia associated with pleural tuberculosis.
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Fungemia/complicaciones , Fungemia/diagnóstico , Rhodotorula/aislamiento & purificación , Tuberculosis Pleural/complicaciones , Tuberculosis Pleural/diagnóstico , Adulto , Anfotericina B/administración & dosificación , Antifúngicos/administración & dosificación , Sangre/microbiología , Fungemia/patología , Humanos , Masculino , Resultado del Tratamiento , Tuberculosis Pleural/patologíaRESUMEN
In the last decades propofol became established as an intravenous agent for the induction and maintenance of both sedation and general anesthesia procedures. In order to achieve the desired clinical effects appropriate infusion rate strategies must be designed. Moreover, it is important to avoid or minimize associated side effects namely adverse cardiorespiratory effects and delayed recovery. Nowadays, to attain these purposes the continuous propofol delivery is usually performed through target-controlled infusion (TCI) systems whose algorithms rely on pharmacokinetic and pharmacodynamic models. This work presents statistical models to estimate both the infusion rate and the bolus administration. The modeling strategy relies on multivariate linear models, based on patient characteristics such as age, height, weight and gender along with the desired target concentration. A clinical database collected with a RugLoopII device on 84 patients undergoing ultrasonographic endoscopy under sedation-analgesia with propofol and remifentanil is used to estimate the models (training set with 74 cases) and assess their performance (test set with 10 cases). The results obtained in the test set comprising a broad range of characteristics are satisfactory since the models are able to predict bolus, infusion rates and the effect-site concentrations comparable to those of TCI. Furthermore, comparisons of the effect-site concentrations for dosages predicted by the proposed Linear model and the Marsh model for the same target concentration is achieved using Schnider model and a factorial design on the factors (patients characteristics). The results indicate that the Linear model predicts a dosage profile that is faster in leading to an effect-site concentration closer to the desired target concentration.
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Anestésicos/administración & dosificación , Monitoreo de Drogas/métodos , Quimioterapia Asistida por Computador/métodos , Modelos Lineales , Propofol/administración & dosificación , Propofol/farmacocinética , Anestésicos Intravenosos/administración & dosificación , Anestésicos Intravenosos/sangre , Anestésicos Intravenosos/farmacocinética , Simulación por Computador , Humanos , Infusiones Intravenosas , Análisis Multivariante , Modelación Específica para el Paciente , Propofol/sangreRESUMEN
This paper presents a model based switching control strategy to drive the neuromuscular blockade (NMB) level of patients undergoing general anesthesia to a predefined reference. A single-input single-output Wiener system with only two parameters is used to model the effect of two different muscle relaxants, atracurium and rocuronium, and a switching controller is designed based on a bank of total system mass control laws. Each of such laws is tuned for an individual model from a bank chosen to represent the behavior of the whole population. The control law to be applied at each instant corresponds to the model whose NMB response is closer to the patient's response. Moreover a scheme to improve the reference tracking quality based on the analysis of the patient's response, as well as, a comparison between the switching strategy and the Extended Kalman Kilter (EKF) technique are presented. The results are illustrated by means of several simulations, where switching shows to provide good results, both in theory and in practice, with a desirable reference tracking. The reference tracking improvement technique is able to produce a better reference tracking. Also, this technique showed a better performance than the (EKF). Based on these results, the switching control strategy with a bank of total system mass control laws proved to be robust enough to be used as an automatic control system for the NMB level.
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Androstanoles/administración & dosificación , Androstanoles/farmacocinética , Monitoreo de Drogas/métodos , Quimioterapia Asistida por Computador/tendencias , Modelos Biológicos , Bloqueo Nervioso/métodos , Androstanoles/sangre , Simulación por Computador , Retroalimentación Fisiológica/fisiología , Humanos , Tasa de Depuración Metabólica , Fármacos Neuromusculares no Despolarizantes/administración & dosificación , Fármacos Neuromusculares no Despolarizantes/sangre , Fármacos Neuromusculares no Despolarizantes/farmacocinética , RocuronioRESUMEN
INTRODUCTION: Neuromyelitis optica spectrum disorders (NMOSD) and MOG-associated disease (MOGAD) are an increasingly recognized group of demyelinating disorders of the central nervous system. Previous studies suggest that prognosis is predicted by older age at onset, number of relapses, the severity of the first attack and autoantibody status. OBJECTIVE: To study prognostic factors associated with disability progression and additional relapses in the 3-year follow-up of a national NMOSD/MOGAD cohort. RESULTS: Out of 180 of the initial Portuguese cohort, data on 82 patients was available at the end of the follow-up period (2019-2022). Two patients died. Twenty (24.4%) patients had one or more attack in this period (25 attacks in total), mostly transverse myelitis (TM) (56.0%) or optic neuritis (32.0%). MOGAD was significantly associated with a monophasic disease course (p = 0.03), with milder attacks (p = 0.01), while AQP4 + NMOSD was associated with relapses (p = 0.03). The most common treatment modalities were azathioprine (38.8%) and rituximab (18.8%). AQP4 + NMOSD more frequently required chronic immunosuppressive treatment, particularly rituximab (p = 0.01). Eighteen (22.5%) had an EDSS ≥6 at the end of the follow-up. AQP4 + NMOSD (p < 0.01) and the occurrence of transverse myelitis (TM) during disease (p = 0.04) correlated with an EDSS≥6 at the end of the follow-up period. MOGAD was significantly associated with an EDSS<6 (p < 0.01), and MOG+ cases that reached an EDSS>6 were significantly older (64.0 ± 2.8 versus 31.0 ± 17.1, p = 0.017). A bivariate logistic regression model including the serostatus and TM attacks during disease history successfully predicted 72.2% of patients that progressed to an EDSS≥6. CONCLUSION: This study highlights that myelitis predict increased disability (EDSS≥6) in NMOSD/MOGAG and AQP4 positivity is associated with increased disability.
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Glicoproteína Mielina-Oligodendrócito , Neuromielitis Óptica , Sistema de Registros , Humanos , Neuromielitis Óptica/epidemiología , Femenino , Masculino , Portugal/epidemiología , Adulto , Pronóstico , Persona de Mediana Edad , Glicoproteína Mielina-Oligodendrócito/inmunología , Estudios de Cohortes , Progresión de la Enfermedad , Autoanticuerpos/sangre , Personas con Discapacidad , Evaluación de la Discapacidad , Acuaporina 4/inmunología , Adulto Joven , Estudios de Seguimiento , Anciano , RecurrenciaRESUMEN
Diffuse idiopathic skeletal hyperostosis (DISH) and axial spondyloarthritis (axial SpA) are differential diagnoses of lower back pain. While the latter is considered to be an inflammatory disease, DISH is thought to be a metabolic condition. The authors report a case of a 34-year-old man who presented with a one-year history of axial lower back pain associated to migratory polyarthritis, buttock and heel pain. Imaging revealed contiguous calcification of the anterior longitudinal ligament of the cervical segment, meeting major criteria for DISH. However, he also exhibited signs of bilateral sacroiliitis highly suggestive of axial SpA for which he initiated biological therapy. LEARNING POINTS: Although the most used criteria for diffuse idiopathic skeletal hyperostosis (DISH) were designed to exclude radiographic signs of spondyloarthritis (SpA), both conditions can be present simultaneously.There are only few case reports in the literature that demonstrate the association of the two diseases.Overlap and misperception of SpA and DISH could result in undertreatment of individual patients and have a negative impact on prognosis.
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Classical Ehlers-Danlos syndrome (cEDS) is one of the 13 subtypes of Ehlers-Danlos syndrome, which has the major clinical criteria of hyperextensibility skin, atrophic scars, and generalised joint hypermobility. The occurrence of aortic dissection has been described in some subtypes of Ehlers-Danlos, but it has a rare association with the cEDS subtype. This case report discusses a 39-year-old female with a past medical history of transposition of great arteries with a Senning repair at the age of 18 months and controlled hypertension with medication, who presents a spontaneous distal aortic dissection. The diagnosis of cEDS was made using the major criteria, and a novel frameshift mutation in COL5A1 was discovered. The reported case emphasises that in patients with cEDS, vascular fragility may be a complication. LEARNING POINTS: Classical Ehlers-Danlos is a rare autosomal dominant inherited connective disorder.Arterial dissections are rarely found in cEDS patients.Association of cEDS and vascular fragility can result from new type V collagen mutation.
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Calcium pyrophosphate crystal deposition disease (CPPD), also known as pseudogout, with spinal involvement, is associated with clinical manifestations of acute nerve compression or chronic spinal stenosis. Precipitation of crystals of calcium pyrophosphate dihydrate in connective tissues can lead to acute inflammatory arthritis, degenerative chronic arthropathies, and radiographic evidence of cartilage calcification. We present a case of an 87-year-old woman, with unstudied chronic polyarthralgia and symptomatic orthostatic hypotension. It were documented acute calcium pyrophosphate deposition wrist arthritis, and cervical CT and MRI was suggestive of spinal involvement of CPPD. Workup excluded other causes of OH. Surgical approach could be indicated to minimize the symptoms, but it was contra-indicated due to the patient's performance status, so histological diagnosis was not possible. Muscle atrophy played an important part in the rapid progression of this insidious chronic disease. Conservative and symptomatic treatment achieve scarce short-term clinical improvement. Spinal involvement of CPPD was thought to be rare but recent studies show a higher prevalence than expected. We call for attention to the extent of structural changes that may occur when not early diagnosed nor treated. High clinical suspicion is required and this is, to our knowledge, the first report of orthostatic hypotension as a presentation of CPPD.
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Condrocalcinosis , Hipotensión Ortostática , Femenino , Humanos , Anciano de 80 o más Años , Condrocalcinosis/complicaciones , Condrocalcinosis/diagnóstico , Pirofosfato de Calcio , Hipotensión Ortostática/etiología , Hipotensión Ortostática/complicaciones , Artralgia , Imagen por Resonancia MagnéticaRESUMEN
BACKGROUND: Metabolic syndrome and multiple sclerosis [MS] share the presence of chronic inflammation in their pathogenic mechanisms. This study aimed to estimate the prevalence of metabolic syndrome parameters in MS and their association with disease disability, cognitive function, and Neurofilament Light chain [NfL] levels. METHODS: Clinical, analytical, and magnetic resonance imaging data were obtained through medical records. Disease disability was measured by the Expanded Disability Status Scale [EDSS], the MS Severity Scale [MSSS] along with cognitive impairment by the Brief International Cognitive Assessment for MS [BICAMS] and Word List Generation test [WLG]. Metabolic syndrome parameters were evaluated by fasting blood glucose, triglycerides, high-density lipoprotein cholesterol [HDL-C], low-density lipoprotein cholesterol, total cholesterol, blood pressure, and waist circumference [WC]. We also analysed serum leptin and ghrelin and cerebrospinal fluid NfL. RESULTS: Our sample included 51 people with MS, 34 (66.7%) females, mean age of 38.20±12.12 years and median disease duration of 3 years (P25=2.0, P75=5.0). Multivariate linear regression analysis confirmed that WC correlates with EDSS (ß=0.04, p=.001) and MSSS (ß=0.07, p=.002) as well as Brief Visuospatial Memory Test-Revised (ß=-0.29, p=.008), WLG (ß=-0.20, p=.039). NfL is also negatively associated with HDL-C (ß=-4.51, p=.038). CONCLUSIONS: Waist circumference is associated with disability and deficits in cognitive tests. A decrease in HDL-C is associated with an increase in NfL. This suggests metabolic syndrome might be an important factor in MS disease course.
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Síndrome Metabólico , Esclerosis Múltiple , Femenino , Humanos , Adulto , Persona de Mediana Edad , Masculino , Síndrome Metabólico/epidemiología , Síndrome Metabólico/complicaciones , Esclerosis Múltiple/complicaciones , Esclerosis Múltiple/diagnóstico por imagen , Esclerosis Múltiple/epidemiología , Estudios Transversales , Portugal/epidemiología , HDL-ColesterolRESUMEN
Aortic dissection is a life-threatening emergency and can present neurological symptoms, mainly associated with a stroke. This represents a challenge to the neurologist because of the necessity to treat the patient with a thrombolytic in a narrow time window, which could have a fatal outcome. A 70-year-old male patient presented in emergency department with an acute stroke (right middle cerebral artery syndrome) without any other symptoms. He was considered eligible for thrombolytic treatment with recombinant tissue plasminogen activator (rt-PA). During the thrombolysis, asymptomatic hypotension was detected which was corrected with volume and dopamine, without significant worsening of the neurologic deficits. A few minutes after the end of the perfusion, the patient complained about an unspecific dorsal discomfort. It was diagnosed a Stanford type A aortic dissection. The patient was submitted to an urgent surgery to replace the aorta. The evolution was good and 12 months later, he is independent in the activities of daily life. This case of an ischaemic stroke caused by an initial asymptomatic aortic dissection treated with rt-PA could have had a bad outcome, as in the majority of similar cases. However, the rapid diagnosis and appropriate treatment of the dissection could have been the main factors to explain the survival of our patient.
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Aneurisma de la Aorta/complicaciones , Disección Aórtica/complicaciones , Isquemia Encefálica/tratamiento farmacológico , Fibrinolíticos/uso terapéutico , Accidente Cerebrovascular/tratamiento farmacológico , Activador de Tejido Plasminógeno/uso terapéutico , Anciano , Disección Aórtica/cirugía , Aneurisma de la Aorta/cirugía , Isquemia Encefálica/complicaciones , Humanos , Masculino , Accidente Cerebrovascular/complicacionesRESUMEN
INTRODUCTION: Several neuroimmunological disorders have distinct phenotypes according to the age of onset, as in multiple sclerosis or myasthenia gravis. It is also described that late onset NMOSD (LONMOSD) has a different phenotype. OBJECTIVE: To describe the clinical/demographic characteristics of the LONMOSD and distinguish them from those with early onset (EONMOSD). METHODS: From a nationwide Portuguese NMOSD study we analyzed the clinical/demographic characteristics of the LONMOSD. RESULTS: From the 180 Portuguese patients 45 had disease onset after 50 years old, 80% were female. 23 had anti-AQP4 antibodies (51.1%), 13 anti-MOG antibodies (28.9%) and 9 were double seronegative (20.0%). The most common presenting phenotypes in LONMOSD were transverse myelitis (53.3%) and optic neuritis (26.7%), without difference from EONMOSD (p = 0.074). The mean EDSS for LONMOSD was 6.0 (SD=2.8), after a mean follow-up time of 4.58 (SD=4.47) years, which was significantly greater than the mean EDSS of EONMOSD (3.25, SD=1.80)(p = 0.022). Anti-AQP4 antibodies positive LONMOSD patients had increased disability compared to anti-MOG antibodies positive LONMOSD (p = 0.022). The survival analysis showed a reduced time to use a cane for LONMOSD, irrespective of serostatus (p<0.001). CONCLUSIONS: LONMOSD has increased disability and faster progression, despite no differences in the presenting clinical phenotype were seen in our cohort.
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Mielitis Transversa , Neuromielitis Óptica , Acuaporina 4 , Autoanticuerpos , Femenino , Humanos , Masculino , Neuromielitis Óptica/epidemiología , Portugal/epidemiologíaRESUMEN
Listeria monocytogenes, although an uncommon cause of illness in the general population, is feared principally because of the morbidity and mortality associated with CNS infections. Cardiovascular involvement with L. monocytogenes is very rare, and has been limited to endocarditis. We describe a case of Listeria pericarditis, which occurred in a 60-year-old man with Child-Pugh B cirrhosis who presented to the emergency department with asthenia, anorexia, and respiratory distress. The echocardiogram showed severe pericardial effusion and after pericardiocentesis, L. monocytogenes was isolated in the culture of pericardial fluid. After surgical pericardiectomy with draining of the pericardial effusion and antibiotic treatment with ampicillin, the patient experienced a slow, but full recovery. Documentation of L. monocytogenes pericarditis is an extremely rare entity with very scarce reports in medical literature, and is usually associated with a very poor prognosis. A case report is presented together with a review of the literature.
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Listeriosis/terapia , Pericardiectomía , Pericarditis/microbiología , Ampicilina/uso terapéutico , Antibacterianos/uso terapéutico , Terapia Combinada , Comorbilidad , Humanos , Listeriosis/epidemiología , Cirrosis Hepática/epidemiología , Masculino , Persona de Mediana Edad , Derrame Pericárdico/cirugía , Pericarditis/epidemiologíaRESUMEN
BACKGROUND: Several disease-modifying therapies (DMTs) have emerged in the last two decades for the treatment of multiple sclerosis (MS). The increasing use of these therapies has enhanced the need to study its impact on long-term disease progression and on the natural history of MS. This study aimed to characterize a Portuguese MS patient cohort in what concerns the natural history of disease by exploring differences throughout 3 decades. METHODS: Longitudinal, retrospective, non-interventional study. Patients aged ≥ 18 years old, with confirmed diagnosis of relapsing-remitting MS (RRMS), were included. Biodemographic and clinical characteristics (MS diagnosis, patient follow-up, relapses, treatment, and exams) were assessed and compared according to the first appointment date throughout 10-year spans (1987-1996; 1997-2006; 2007-2016). RESULTS: 548 patients were included in this analysis. Significant differences were observed between decades for evoked potential (EP) and cerebrospinal fluid (CSF) exams conducted at diagnosis, the first with less expression on the last decade; the median number of relapses per year (higher in the subgroup 07-16); EDSS at baseline and at last appointment (both higher in the subgroup 87-96); and the percentage of patients achieving EDSS 3.0 and EDSS 6.0 (increased in the subgroup 87-96). Additionally, time from diagnosis to first treatment was significantly lower in patients from the most recent decade, and a greater percentage of such patients, compared to the other two subgroups, was, at last appointment, under a second line DMT. CONCLUSION: In general, our study reflects findings from longitudinal studies on MS progression already published in the literature. In recent years, the growing number of more effective DMTs, along with earlier disease detection, and improvements in access to healthcare appear to have had a positive impact on patients' access to treatment and, consequently, disease progression. Additional studies, with increased follow up time, are needed to further investigate the effect of treatment improvement in the natural history of MS.
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Esclerosis Múltiple Recurrente-Remitente , Esclerosis Múltiple , Adolescente , Estudios de Cohortes , Humanos , Esclerosis Múltiple Recurrente-Remitente/diagnóstico , Esclerosis Múltiple Recurrente-Remitente/tratamiento farmacológico , Esclerosis Múltiple Recurrente-Remitente/epidemiología , Portugal/epidemiología , Estudios RetrospectivosRESUMEN
Calcinosis cutis is a rare and potentially disabling condition characterized by calcium deposition in soft tissues. When associated with autoimmune connective tissue diseases, calcinosis cutis is classified as Dystrophic Calcinosis Cutis (DCC), being its occurrence in systemic lupus erythematosus (SLE) patients fairly uncommon. We report a case of DCC in a 49 years old woman with eleven years evolution SLE that presented with a two years history of multiple painful skin lesions, some of them ulcerated and exhibiting a chalky white-yellow floor, in both hands, forearms, thighs, buttocks, abdomen and left breast. The pelvic X-ray showed soft tissue calcifications and the skin biopsy confirmed the diagnosis of DCC. The patient was treated with diltiazem 240mg/day and a significant regression of the lesions and associated pain was observed. Dystrophic calcinosis cutis is often a painful and disrupting condition in which timely diagnosis and treatment may be quite challenging.
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Enfermedades Autoinmunes , Calcinosis , Enfermedades del Tejido Conjuntivo , Lupus Eritematoso Sistémico , Enfermedades de la Piel , Enfermedades Autoinmunes/complicaciones , Calcinosis/complicaciones , Calcinosis/etiología , Enfermedades del Tejido Conjuntivo/complicaciones , Femenino , Humanos , Lupus Eritematoso Sistémico/complicaciones , Lupus Eritematoso Sistémico/diagnóstico , Lupus Eritematoso Sistémico/patología , Persona de Mediana Edad , Enfermedades de la Piel/diagnóstico , Enfermedades de la Piel/etiologíaRESUMEN
INTRODUCTION: Neuromyelitis optica spectrum disorder (NMOSD) is a rare disorder in which astrocyte damage and/or demyelination often cause severe neurological deficits. OBJECTIVE: To identify Portuguese patients with NMOSD and assess their epidemiological/clinical characteristics. METHODS: This was a nationwide multicenter study. Twenty-four Portuguese adult and 3 neuropediatric centers following NMOSD patients were included. RESULTS: A total of 180 patients met the 2015 Wingerchuk NMOSD criteria, 77 were AQP4-antibody positive (Abs+), 67 MOG-Abs+, and 36 seronegative. Point prevalence on December 31, 2018 was 1.71/100,000 for NMOSD, 0.71/100,000 for AQP4-Abs+, 0.65/100,000 for MOG-Abs+, and 0.35/100,000 for seronegative NMOSD. A total of 44 new NMOSD cases were identified during the two-year study period (11 AQP4-Abs+, 27 MOG-Abs+, and 6 seronegative). The annual incidence rate in that period was 0.21/100,000 person-years for NMOSD, 0.05/100,000 for AQP4-Abs+, 0.13/100,000 for MOG-Abs+, and 0.03/100,000 for seronegative NMOSD. AQP4-Abs+ predominated in females and was associated with autoimmune disorders. Frequently presented with myelitis. Area postrema syndrome was exclusive of this subtype, and associated with higher morbidity/mortality than other forms of NMOSD. MOG-Ab+ more often presented with optic neuritis, required less immunosuppression, and had better outcome. CONCLUSION: Epidemiological/clinical NMOSD profiles in the Portuguese population are similar to other European countries.
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Neuromielitis Óptica , Adulto , Acuaporina 4 , Autoanticuerpos , Estudios Epidemiológicos , Femenino , Humanos , Glicoproteína Mielina-Oligodendrócito , Neuromielitis Óptica/epidemiología , Portugal/epidemiologíaRESUMEN
Fasciitis with eosinophilia (FE) is a rare connective tissue disease. Due to its rarity, large-scale studies are lacking, which makes its treatment challenging. Systemic corticosteroids (SCSs) are the cornerstone of treatment; however, additional immunosuppressive drugs (ISDs) are frequently necessary (usually methotrexate). We report 2 patients, for whom an SCS and methotrexate were not a viable long-term option. In the first case, we were unable to taper the SCS dose without symptom relapse, the patient showed only a partial response to methotrexate and presented side effects. The second case never fully responded to the SCS and methotrexate and demonstrated serious SCS adverse effects. Both patients were started on tocilizumab with extremely favourable results, making this drug a potential therapeutic weapon for these patients. LEARNING POINTS: The treatment of FE is challenging and mainly based on retrospective reviews, open-label trials and case reports, all of which included a small number of patients.Currently, systemic corticosteroids are the mainstay of treatment; however, other ISDs are frequently necessary.Cases showing a favourable clinical response to tocilizumab have recently been described in patients with corticosteroid-refractory disease, suggesting that this drug may potentially become a therapeutic weapon for these patients.