Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 24
Filtrar
Más filtros

País/Región como asunto
Tipo del documento
País de afiliación
Intervalo de año de publicación
1.
Ultraschall Med ; 44(5): 487-494, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37832534

RESUMEN

PURPOSE: Posterior reversible encephalopathy syndrome (PRES) and reversible cerebral vasoconstriction syndrome (RCVS) are often complicated by vasospasm and ischemia. Monitoring with transcranial color-coded Doppler (TCCD) could be useful, but its role is not established. We studied the incidence of ultrasonographic vasospasm (uVSP) in PRES/RCVS and its relationship with ischemic lesions and clinical outcome. MATERIALS AND METHODS: We conducted a multicenter retrospective study of all patients with PRES/RCVS from 2008 to 2020 who underwent TCCD and magnetic resonance imaging (MRI). TCCD exams were analyzed for uVSP. Diffusion-weighted MRI was analyzed for positive lesions (DWI-positive). Functional outcome was assessed by modified Rankin scale (mRS) at 90 days. The associations with outcomes were determined by logistic regression. RESULTS: We included 80 patients (mean age of 46 (standard deviation, 17) years; 66% females; 41 with PRES, 28 with RCVS and 11 with overlap phenotype). uVSP was detected in 25 (31%) patients. DWI-positive lesions were more often detected in uVSP-positive than uVSP-negative patients (36% vs. 15%; adjusted odds ratio [aOR] 4.05 [95% CI 1.06 - 15.5], P=0.04). DWI-positive lesions were independently associated with worse functional prognosis (mRS 2-6, 43% vs. 10%; aOR, 10 [95% CI 2.6 - 43], P<0.01). Having additional uVSP further increased the odds of a worse outcome (P interaction=0.03). CONCLUSION: Ultrasonographic vasospasm was detected in a third of patients with PRES/RCVS and was associated with brain ischemic lesions. TCCD bedside monitoring can help to stratify patients at risk for cerebral ischemia, a strong predictor of functional outcome.


Asunto(s)
Síndrome de Leucoencefalopatía Posterior , Vasoespasmo Intracraneal , Femenino , Humanos , Persona de Mediana Edad , Masculino , Vasoconstricción , Estudios Retrospectivos , Síndrome de Leucoencefalopatía Posterior/diagnóstico por imagen , Imagen por Resonancia Magnética , Pronóstico , Vasoespasmo Intracraneal/diagnóstico por imagen
2.
Headache ; 62(8): 1002-1006, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-36005285

RESUMEN

OBJECTIVE: To evaluate the response to treatment of acute trigeminal neuralgia (TN) exacerbations in the emergency department (ED). BACKGROUND: TN is characterized by recurrent and intense pain paroxysms. Some patients experience severe acute exacerbations requiring ED presentation. The optimal management of these episodes is not well established. METHODS: We present a case series of TN exacerbations in adults who presented to the ED of a tertiary center from January 2008 to December 2020. We analyzed demographic and clinical data, including pharmacological management in the ED. The primary outcome was pain relief, classified into "no relief," "partial relief," and "satisfactory relief" based on the qualitative description in the ED's records. RESULTS: Ultimately 197 crisis episodes corresponding to 140 patients were included. Most were women (61%, 121/197) with a median age of 63 years (interquartile range: 52-73). Acute TN exacerbations were treated with opioids in 78% (108/139) of crisis episodes, nonsteroidal anti-inflammatory drugs in 42% (58/139), corticosteroids in 21% (29/139), intravenous phenytoin in 18% (25/139), and intravenous lidocaine in 6% (8/139). Of the 108 cases treated with opioids, 78 (72%) required additional drugs for pain management. Intravenous phenytoin allowed satisfactory pain relief in 64% of cases. CONCLUSION: In our sample, opioids were the most used therapeutic approach in acute TN exacerbations despite their low efficacy and subsequent need for further drug treatment in most cases. Most crisis episodes managed with intravenous phenytoin reached total pain relief. Prospective studies are needed to guide the treatment of acute exacerbations of TN.


Asunto(s)
Neuralgia del Trigémino , Adulto , Servicio de Urgencia en Hospital , Femenino , Humanos , Masculino , Persona de Mediana Edad , Dolor/tratamiento farmacológico , Fenitoína , Estudios Retrospectivos , Resultado del Tratamiento , Neuralgia del Trigémino/tratamiento farmacológico
3.
Acta Neurol Scand ; 146(2): 152-159, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35548885

RESUMEN

BACKGROUND: Congenital myopathies (CM) were traditionally classified according to the muscle histopathological features, but in recent years, molecular diagnosis has become increasingly important. CM may present a wide phenotype variability, and while adult-onset CM have been increasingly recognized, substantial diagnostic delays are still reported. OBJECTIVES: To describe a cohort of adult CM patients, including clinical, genetic, and histopathological features, and further characterize the subgroup of adult-diagnosed patients. MATERIALS AND METHODS: We performed a retrospective observational cohort study to characterize the CM patients evaluated in our adult Neuromuscular outpatient clinic, including the subgroup of adult-diagnosed patients. RESULTS: We identified 19 CM patients with compatible molecular and/or histological diagnoses, of which 14 were diagnosed in adulthood. Eleven adult-diagnosed patients had symptoms since childhood and 9 had a family history of myopathy. The median age of symptoms' onset was 4 years old and the median age at diagnosis was 37 years old. The most common causative gene was RYR1, followed by TTN and MYH7. Three patients had non-specific features on muscle biopsy, all diagnosed during adulthood. CONCLUSIONS: In our cohort, the majority of CM were diagnosed in adulthood, despite most having pediatric-onset symptoms and positive family history. The diagnostic delay may be associated with mild presentation, slow course, atypical muscle histology, and lack of awareness of adult-onset CM. Studies with larger populations are needed.


Asunto(s)
Diagnóstico Tardío , Enfermedades Musculares , Estudios de Cohortes , Humanos , Músculo Esquelético/patología , Enfermedades Musculares/patología , Mutación/genética , Estudios Retrospectivos
4.
Eur J Neurol ; 28(11): 3798-3804, 2021 11.
Artículo en Inglés | MEDLINE | ID: mdl-33991365

RESUMEN

BACKGROUND AND PURPOSE: Literature regarding headache teleconsultation and patient satisfaction is scarce. The SARS-CoV-2 pandemic led to the restructuring of traditional clinical activity by adopting telemedicine. Our objectives were to evaluate patients' satisfaction with headache teleconsultation by telephone during the SARS-CoV-2 pandemic and assess patients' preferred model of appointment (face-to-face, teleconsultation by telephone, or both). METHODS: Patients with a previous diagnosis of primary headache or neuropathies and facial pain disorders, and at least one telephone headache visit during the first wave of COVID-19, filled out an online questionnaire regarding sociodemographic parameters, satisfaction with teleconsultation, and preferred model of appointment. RESULTS: We included 83 patients (valid response rate of 64.3%); most had migraine (83.1%). Regarding teleconsultation, 81.9% considered this model adequate for follow-up, 88.0% were satisfied with the information provided about the disease/treatment, and 73.5% were satisfied with the medication modification. Ninety percent would agree with a new tele-evaluation if stable after the pandemic. The mixed model was the preferred medical consultation type for the postpandemic period (43.4%), followed by face-to-face visits (33.7%). CONCLUSIONS: Patients were satisfied with the headache teleconsultation during the COVID-19 era. However, an exclusive model of telemedicine does not seem suitable for monitoring all patients. A mixed approach could be integrated into clinical practice after the pandemic to optimize health care.


Asunto(s)
COVID-19 , Consulta Remota , Cefalea/diagnóstico , Cefalea/epidemiología , Cefalea/terapia , Humanos , Satisfacción del Paciente , SARS-CoV-2
5.
J Stroke Cerebrovasc Dis ; 30(7): 105844, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-33984744

RESUMEN

OBJECTIVES: We aimed to analyse the relationship between specific inflammatory biomarkers' levels and the temporal pattern of cerebral venous thrombosis (CVT) symptoms. MATERIALS AND METHODS: We performed a retrospective study of adult CVT patients admitted between Jan 01 2006 and Dec 31 2019. We excluded patients with infection at admission, autoimmune, inflammatory or haematological disorders. We evaluated serum inflammatory biomarkers at admission: C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), absolute neutrophil count, absolute lymphocyte count, platelet count, monocyte count, neutrophile-to-lymphocyte ratio (NLR), lymphocyte-to-monocyte ratio (LMR), platelet-to-lymphocyte ratio (PLR), bilirubin and monocyte-to-HDL ratio (M-HDLR). These were evaluated according to the time from symptom onset (acute, subacute or chronic). RESULTS: We included 78 patients with CVT (mean age 41 ± 13 years). Neutrophil count (p = 0.017), monocyte (p = 0.024), CRP (p = 0.004), NLR (p<0.001) and LMR (p = 0.004) showed significant variation with CVT duration. Acute onset CVT exhibited higher absolute neutrophil count and NLR but lower LMR. The subacute group had higher monocyte values, and the chronic phase patients displayed higher LMR, but lower CRP. ESR, PLR and M-HDLR showed a tendency to decrease in the chronic phase. We did not observe any statistical difference between the duration of symptoms and levels of bilirubin. CONCLUSIONS: CVT patients present a differential inflammatory pattern along the time course of the disease: higher NLR and lower LMR in acute phase, and higher LMR and lower CRP level during the chronic phase. These differences may help to ascertain the onset of poorly defined symptoms and provide input regarding anticoagulation management.


Asunto(s)
Plaquetas , Proteína C-Reactiva/análisis , Eritrocitos , Mediadores de Inflamación/sangre , Trombosis Intracraneal/sangre , Linfocitos , Neutrófilos , Trombosis de la Vena/sangre , Adulto , Anticoagulantes/uso terapéutico , Biomarcadores/sangre , Sedimentación Sanguínea , Femenino , Humanos , Factores Inmunológicos/uso terapéutico , Trombosis Intracraneal/diagnóstico , Trombosis Intracraneal/tratamiento farmacológico , Recuento de Linfocitos , Masculino , Persona de Mediana Edad , Recuento de Plaquetas , Valor Predictivo de las Pruebas , Pronóstico , Estudios Retrospectivos , Factores de Tiempo , Trombosis de la Vena/diagnóstico , Trombosis de la Vena/tratamiento farmacológico
6.
J Stroke Cerebrovasc Dis ; 29(4): 104683, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-32059925

RESUMEN

BACKGROUND AND AIM: The coexistence of cerebral venous thrombosis (CVT) and hematological neoplasms is rare. Currently available therapeutic options raise problems concerning the balance of thrombotic and hemorrhagic risks. Our purpose is to characterize a series of cases of CVT and concomitant hematological malignancy, focusing on predisposing factors and treatment strategies. METHODS: We performed a descriptive retrospective analysis of the cases of CVT and hematological neoplasms diagnosed in a tertiary center from 2006 to 2015. RESULTS: From the 111 CVT cases diagnosed, only 7 coexisted with hematological malignancy (lymphoma, leukemia, multiple myeloma, and myelodysplastic syndromes). These included 4 women; median age was 44 years old. Median follow-up time was 72 days. The hematological condition was already known in 5 cases. Besides malignancy, we identified other prothrombotic conditions in all cases. Several anticoagulant strategies were used during the acute phase, after which 5 patients remained on warfarin indefinitely. One patient died due to cerebral hemorrhage during the acute phase. In the remaining 6 patients, there was no recurrence of CVT or other complications of anticoagulation. CONCLUSIONS: Although these results reiterate the role of hematological malignancy as predisposing factor to CVT, in all cases other factors contributed to CVT etiology, potentiating the risk. We report 1 death directly attributable to a fatal hemorrhagic complication of anticoagulation, evidencing the delicate balance of thrombotic and hemorrhagic risk. Nevertheless, most patients benefited of long-term anticoagulation, which proved a reasonable option. A multidisciplinary approach is paramount in making decisions regarding the time and type of anticoagulation.


Asunto(s)
Anticoagulantes/uso terapéutico , Neoplasias Hematológicas/terapia , Trombosis Intracraneal/tratamiento farmacológico , Trombosis de la Vena/tratamiento farmacológico , Adulto , Anciano , Anticoagulantes/efectos adversos , Hemorragia Cerebral/inducido químicamente , Hemorragia Cerebral/mortalidad , Femenino , Neoplasias Hematológicas/complicaciones , Neoplasias Hematológicas/diagnóstico , Neoplasias Hematológicas/mortalidad , Humanos , Trombosis Intracraneal/diagnóstico , Trombosis Intracraneal/etiología , Trombosis Intracraneal/mortalidad , Masculino , Persona de Mediana Edad , Recurrencia , Estudios Retrospectivos , Medición de Riesgo , Factores de Riesgo , Factores de Tiempo , Resultado del Tratamiento , Trombosis de la Vena/diagnóstico , Trombosis de la Vena/etiología , Trombosis de la Vena/mortalidad
8.
J Integr Med ; 22(3): 235-244, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38493063

RESUMEN

BACKGROUND: Pain associated with cancer is one of the greatest causes of reduced quality of life in patients. Acupuncture is one of the treatments used to address this issue, with the great advantage of having little or no side effects, especially when compared with pharmacological pain-killers. OBJECTIVE: The aim of this systematic review and meta-analysis was to evaluate the current evidence regarding the efficacy of acupuncture for cancer pain. SEARCH STRATEGY: Six electronic databases (PubMed, EBSCO, Cochrane Library, Scielo, b-On and Scopus) were searched for relevant articles about pain relief in cancer patients from their beginning until 2022 using MeSH terms such as "acupuncture," "electroacupuncture," "ear acupuncture," "acupuncture analgesia," ''oncological pain," and "cancer pain." INCLUSION CRITERIA: Studies included were randomized controlled trials (RCTs) where acupuncture was compared with no treatment, placebo acupuncture or usual care. DATA EXTRACTION AND ANALYSIS: Three independent reviewers participated in data extraction and evaluation of risk of bias, and a meta-analysis was conducted. The primary outcome was pain intensity, measured with the visual analog scale, numeric rating scale, or brief pain inventory. Secondary outcomes also assessed were quality of life, functionality, xerostomia, pain interference, and analgesic consumption. Results were expressed as standardized mean difference (SMD) with 95% confidence interval (CI). RESULTS: Sixteen RCTs with a total of 1124 participants were included in the meta-analysis, with the majority of the studies presenting a low or unclear risk of bias. Acupuncture was more effective in reducing pain than no treatment (SMD = -0.90, 95 % CI [-1.68, -0.12]), sham acupuncture (SMD = -1.10, 95 % CI [-1.59, -0.61]) or usual care (SMD = -1.16, 95 % CI [-1.38, -0.93]). CONCLUSION: The results of this study suggest that acupuncture may be an effective intervention to reduce pain associated with cancer. Despite some limitations due to the low quality and small sample size of some included studies, as well as the different types and stages of cancer, acupuncture might provide an effective and safe treatment to reduce cancer pain. Please cite this article as: Faria M, Teixeira M, Pinto MJ, Sargento P. Efficacy of acupuncture on cancer pain: A systematic review and meta-analysis. J Integr Med. 2024; 22(3): 235-244.


Asunto(s)
Terapia por Acupuntura , Dolor en Cáncer , Humanos , Dolor en Cáncer/terapia , Calidad de Vida , Manejo del Dolor/métodos , Ensayos Clínicos Controlados Aleatorios como Asunto , Dimensión del Dolor , Neoplasias/complicaciones , Neoplasias/terapia , Resultado del Tratamiento
9.
Acta Med Port ; 36(5): 363-367, 2023 May 02.
Artículo en Portugués | MEDLINE | ID: mdl-37130571

RESUMEN

Spontaneous intracranial hypotension (SIH) is a syndrome characterized by disabling orthostatic headache, due to reduced cerebrospinal fluid (CSF) volume probably caused by a CSF fistula. It affects mostly women of working-age, although it is probably underdiagnosed. The aim of this article is to present a practical approach to the diagnosis and treatment of SIH. After a description of its symptoms and signs, we present a step-by-step approach to the confirmation of the diagnosis and treatment, considering different clinical scenarios. This is intended to guide clinical decision making, through a systematized and individualized management, aimed at the best interest of the patient.


A hipotensão intracraniana espontânea (HIE) é uma síndrome caracterizada por cefaleia ortostática incapacitante, fruto de uma redução do volume de líquido cefalorraquidiano (LCR) provavelmente causada por uma fístula de LCR. Afeta sobretudo mulheres em idade ativa, estando provavelmente subdiagnosticada. Este protocolo visa apresentar uma proposta de abordagem prática ao diagnóstico e tratamento da HIE. Após uma secção descritiva das manifestações clínicas da HIE, apresentamos um modelo de atuação passo-a-passo para a confirmação do seu diagnóstico e tratamento, considerando diferentes cenários clínicos. Pretende-se, assim, facilitar a decisão clínica através de uma conduta sistematizada e individualizada, visando o melhor interesse do doente.


Asunto(s)
Hipotensión Intracraneal , Humanos , Femenino , Masculino , Hipotensión Intracraneal/diagnóstico , Hipotensión Intracraneal/terapia , Hipotensión Intracraneal/etiología , Pérdida de Líquido Cefalorraquídeo/complicaciones , Cefalea/diagnóstico , Cefalea/etiología , Cefalea/terapia , Síndrome , Toma de Decisiones Clínicas , Imagen por Resonancia Magnética
10.
Ann Intensive Care ; 13(1): 7, 2023 Feb 11.
Artículo en Inglés | MEDLINE | ID: mdl-36764980

RESUMEN

BACKGROUND: The past years have witnessed dramatic changes in the population admitted to the intensive care unit (ICU). Older and sicker patients are now commonly treated in this setting due to the newly available sophisticated life support. However, the short- and long-term benefit of this strategy is scarcely studied. METHODS: The Critically Ill patients' mortality by age: Long-Term follow-up (CIMbA-LT) was a multicentric, nationwide, retrospective, observational study addressing short- and long-term prognosis of patients admitted to Portuguese multipurpose ICUs, during 4 years, according to their age and disease severity. Patients were followed for two years after ICU admission. The standardized hospital mortality ratio (SMR) was calculated according to the Simplified Acute Physiology Score (SAPS) II and the follow-up risk, for patients discharged alive from the hospital, according to official demographic national data for age and gender. Survival curves were plotted according to age group. RESULTS: We included 37.118 patients, including 15.8% over 80 years old. The mean SAPS II score was 42.8 ± 19.4. The ICU all-cause mortality was 16.1% and 76% of all patients survive until hospital discharge. The SAPS II score overestimated hospital mortality [SMR at hospital discharge 0.7; 95% confidence interval (CI) 0.63-0.76] but accurately predicted one-year all-cause mortality [1-year SMR 1.01; (95% CI 0.98-1.08)]. Survival curves showed a peak in mortality, during the first 30 days, followed by a much slower survival decline thereafter. Older patients had higher short- and long-term mortality and their hospital SMR was also slightly higher (0.76 vs. 0.69). Patients discharged alive from the hospital had a 1-year relative mortality risk of 6.3; [95% CI 5.8-6.7]. This increased risk was higher for younger patients [21.1; (95% CI 15.1-39.6) vs. 2.4; (95% CI 2.2-2.7) for older patients]. CONCLUSIONS: Critically ill patients' mortality peaked in the first 30 days after ICU admission. Older critically ill patients had higher all-cause mortality, including a higher hospital SMR. A long-term increased relative mortality risk was noted in patients discharged alive from the hospital, but this was more noticeable in younger patients.

11.
Mult Scler Relat Disord ; 67: 104086, 2022 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-35985210

RESUMEN

BACKGROUND: Common variable immunodeficiency disorders (CVID) are a group of primary immunodeficiencies characterized by impaired immunoglobulin production and dysregulated immune response. Neurological manifestations have been described in a few patients, and little is known about its clinic and therapeutic approach. Thus, this work aimed to review the literature on it and to help differentiate CVID from its mimics, especially sarcoidosis. METHODS: We described a case report and included a literature review of inflammatory neurological involvement in CVID. RESULTS: A 32-year-old female patient with a medical history of recurrent bacterial infections, temporal focal epilepsy and granulomatous lung disease under study, and cervix squamous cell carcinoma, was initially admitted to the emergency department due to intracranial hypertension. After excluding infectious and neoplastic etiologies, the most likely hypothesis was that granulomatous pulmonary, cerebral, and leptomeningeal inflammatory involvement were associated with sarcoidosis. Two years later, a diagnosis of CVID was made, and the patient was secondarily diagnosed with Granulomatous and Lymphocytic Interstitial Lung Disease (GLILD) and related inflammatory brain disease - both complications of CVID. After starting targeted treatment with immunoglobulin replacement and pulse glucocorticoids followed by a chronic taper, the patient became stable. However, three consecutive failures in immunoglobulin intake during the COVID-19 pandemic led to disease recurrence with relapse of neurological manifestations. CONCLUSION: This case illustrates the complex multiple organ manifestations of CVID. When granulomatous conditions arise in these patients, a rare lung disease arising in the context of CVID, the GLILD disease with multisystem involvement, should be taken into consideration. Early treatment with combined steroids and immunotherapy seems to be effective in controlling CVID's neurological manifestations.


Asunto(s)
COVID-19 , Inmunodeficiencia Variable Común , Enfermedades Pulmonares Intersticiales , Sarcoidosis , Femenino , Humanos , Adulto , Inmunodeficiencia Variable Común/complicaciones , Inmunodeficiencia Variable Común/diagnóstico , Enfermedades Pulmonares Intersticiales/etiología , Pandemias , Recurrencia Local de Neoplasia , Sarcoidosis/complicaciones , Sarcoidosis/diagnóstico , Inmunoglobulinas/uso terapéutico
12.
J Neuromuscul Dis ; 9(5): 649-654, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36031908

RESUMEN

 Emery-Dreifuss Muscular Dystrophy (EDMD) is an early-onset, slowly-progressive group of myopathies, presenting with joint contractures, muscle weakness and cardiac abnormalities. Variants in the EMD gene cause an X-linked recessive form (EDMD1). The scarce EDMD1 muscle MRI accounts in the literature describe fatty replacement of posterior thigh and leg muscles.We report a 22-year-old patient with early-onset bilateral joint contractures, slowly progressive muscle weakness and minor cardiac rhythm abnormalities. A novel loss-of-function variant of EMD was identified and deemed probably pathogenic in the absence of emerin detection by immunofluorescence and Western Blot. MRI revealed fatty replacement of the lumbar spinal erectors and the posterior compartment of lower limbs. Interestingly, Short Tau Inversion Recovery (STIR) sequences showed a heterogenous hyper signal on the vasti, hamstrings and left lateral gastrocnemius muscles.Oedema-like abnormalities were previously reported in early stages of other muscular dystrophies, preceding fatty replacement and muscle atrophy, but not in EDMD1 patients. We hypothesize that these oedema-like changes may be a marker of early muscle pathology in EDMD1. Further studies focusing on these abnormalities in the early phase of EDMD1 are required to test our hypothesis.


Asunto(s)
Contractura , Distrofia Muscular de Emery-Dreifuss , Distrofia Muscular de Emery-Dreifuss Ligada a X , Adulto , Contractura/patología , Humanos , Imagen por Resonancia Magnética , Debilidad Muscular/patología , Músculo Esquelético , Distrofia Muscular de Emery-Dreifuss/diagnóstico por imagen , Distrofia Muscular de Emery-Dreifuss/genética , Adulto Joven
13.
Cureus ; 13(3): e14047, 2021 Mar 22.
Artículo en Inglés | MEDLINE | ID: mdl-33898133

RESUMEN

Idiopathic chronic eosinophilic pneumonia (CEP) is a rare disease of unknown cause characterized by eosinophilic alveolar and interstitial infiltration. The authors describe the case of a 46-year-old black man, presenting with insidious onset and progressive course of dyspnea on minimum exertion, cough, fever, night sweats, and weight loss for one year and worsening in the last three months. The main findings were serum eosinophilia. Chest radiographs showed multifocal infiltrations of irregular distribution in both lungs and a restrictive functional impairment. The patient underwent open lung biopsy, and the anatomopathological examination revealed consolidation by exudate constituted predominantly by macrophages (25%) and eosinophils (51%), which filled small air spaces, including respiratory and membranous bronchioles. The anatomopathological diagnosis was eosinophilic pneumonia (eosinophils > 25% is widely accepted for diagnosing eosinophilic pneumonia). The patient had a good clinical response after starting corticosteroid therapy.

14.
Parkinsonism Relat Disord ; 86: 81-83, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33878570

RESUMEN

DYT-GCH1 is the most common form of Dopa-responsive dystonia. We analysed a three-generation Portuguese family with the same variant of DYT-GCH1. Dystonia and parkinsonism were found, along with non-motor symptoms. There was a wide array of phenotypic manifestations. Further studies are needed to explain the wide clinical expression of this entity.


Asunto(s)
Variación Biológica Poblacional , Trastornos Distónicos , Adulto , Anciano de 80 o más Años , Trastornos Distónicos/genética , Femenino , GTP Ciclohidrolasa/genética , Humanos , Masculino , Persona de Mediana Edad , Linaje , Portugal , Población Blanca/genética , Adulto Joven
15.
BMJ Case Rep ; 13(8)2020 Aug 11.
Artículo en Inglés | MEDLINE | ID: mdl-32784234

RESUMEN

Acute facial nerve disease leading to peripheral facial paralysis is commonly associated with viral infections. COVID-19 may be a potential cause of peripheral facial paralysis and neurological symptoms could be the first and only manifestation of the disease. We report a case of a term pregnancy diagnosed with COVID-19 after presenting with isolated peripheral facial palsy.


Asunto(s)
Betacoronavirus , Infecciones por Coronavirus/complicaciones , Parálisis Facial/etiología , Neumonía Viral/complicaciones , Complicaciones Infecciosas del Embarazo/etiología , Adulto , COVID-19 , Parálisis Facial/terapia , Femenino , Humanos , Pandemias , Modalidades de Fisioterapia , Embarazo , Complicaciones Infecciosas del Embarazo/terapia , SARS-CoV-2
16.
Mov Disord Clin Pract ; 7(4): 472-474, 2020 May.
Artículo en Inglés | MEDLINE | ID: mdl-32373670

RESUMEN

https://onlinelibrary.wiley.com/page/journal/23301619/homepage/mdc312941-sup-v001.htm.

17.
Eur J Case Rep Intern Med ; 6(10): 001270, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31934577

RESUMEN

Whipple's disease is a rare multisystemic infectious disease that can mimic lymphoproliferative disorders and must be considered in the differential diagnosis of febrile syndromes. The authors describe the case of a 55-year-old man who presented to the Emergency Department with dyspnoea and abdominal pain. He had a 2-month history of fever, night sweats, asthenia and unintentional weight loss. Upon clinical examination he had bilateral inguinal lymphadenopathy. Blood tests showed iron-deficit anaemia and high C-reactive protein. Abdominal ultrasound showed mesenteric and iliac adenopathies and hepatosplenomegaly. The patient was admitted to the Internal Medicine department for additional testing. Flow cytometry analysis of peripheral blood showed CD5-positive monoclonal B-cell expansion. Excisional biopsy of a retroperitoneal adenopathy guided by computed tomography showed periodic acid-Schiff-positive bacilli inside the macrophages, further identified as Tropheryma whipplei through polymerase chain reaction. Bone marrow biopsy showed a scarce positive CD5 lymphoid population and haematopoietic alterations related to infection. The patient started treatment for T. whipplei with complete symptom resolution. This is the first case describing the simultaneous diagnosis of Whipple's disease and chronic lymphocytic leukaemia in a patient with constitutional symptoms, fever and lymphadenopathies. LEARNING POINTS: Whipple's disease can mimic lymphoproliferative disorders and should be considered in the differential diagnosis of lymphadenopathy and fever, even in the absence of gastrointestinal symptoms.Most patients with chronic lymphocytic leukaemia are asymptomatic, but a minority have B symptoms and increased risk of infections.An accurate clinical history and differential diagnosis are fundamental; if the authors had not had a high level of suspicion, this patient could have been diagnosed with just chronic lymphocytic leukaemia and may have died if Whipple's disease had been left untreated.

18.
Eur J Case Rep Intern Med ; 5(12): 000969, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30755994

RESUMEN

Mauriac syndrome, first described in 1930, is typically diagnosed in young patients with poorly controlled type 1 diabetes mellitus and growth retardation, delayed puberty, Cushingoid features, hypercholesterolaemia and hepatomegaly. However, the sole presenting feature of Mauriac syndrome can be hepatic glycogenosis in both adults and children. The mainstay of treatment for hepatic glycogenosis is strict control of glucose levels, with an excellent prognosis with improved glycaemic control. The authors present the case of a 22-year-old female patient with type 1 diabetes mellitus and a history of poor glycaemic control who was admitted with diabetic ketoacidosis (DKA). She complained of episodes of right upper quadrant abdominal pain associated with nausea and vomiting for the last 2 months with worsening in the last 48 hours. Physical examination was remarkable for short stature and tenderness over the hepatic area with a mildly enlarged liver. The patient had elevated liver enzymes and persistent hyperlactacidaemia despite DKA resolution. Liver imaging suggested diffuse fat infiltration. The clinical suspicion of hepatic glycogenosis was confirmed by liver biopsy. After glycaemic control was improved, liver enzymes normalized and the episodes of abdominal pain, nausea and vomiting subsided. LEARNING POINTS: Hepatic glycogenosis can be the sole presenting feature of Mauriac syndrome.Hepatic glycogenosis is an under-recognized cause of abdominal pain in patients with type 1 diabetes mellitus.Hepatic glycogenosis may be confused with non-alcoholic fatty liver disease, with important therapeutic implications and a distinct prognosis.The mainstay of treatment for hepatic glycogenosis is strict glycaemic control with an excellent prognosis when achieved.

19.
ESC Heart Fail ; 5(6): 1017-1022, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-30144302

RESUMEN

AIMS: Growth differentiation factor (GDF)-15 mirrors inflammation and oxidative stress in cardiovascular diseases. Brain natriuretic peptide (BNP) is associated with cardiomyocyte stretch in heart failure (HF). The objective of this study was to evaluate the prognostic impact of plasma GDF-15 and BNP in acute HF. METHODS AND RESULTS: We studied a subgroup of patients prospectively recruited in an acute HF registry (follow-up: 2 years; endpoint: all-cause mortality). Cox regression multivariate models were built to study the association of GDF-15 and mortality. Further cross-classification according to discharge GDF-15 (mean) and BNP (mean) and association with mortality was studied. We studied 158 patients: seventy-nine were male, mean age was 75 years, 55.1% had left ventricular ejection fraction < 40%, mean discharge BNP was 1000 pg/mL, and mean GDF-15 was 3013 ng/mL. Higher BNP and GDF-15 predicted 2-year mortality. Patients with GDF-15 ≥ 3000 ng/mL had a multivariate adjusted 2-year death risk of 1.86 (1.08-3.18). Patients discharged with both BNP and GDF-15 above the mean had an adjusted hazard ratio of 4.33 (2.07-9.06) when compared with those with both

Asunto(s)
Factor 15 de Diferenciación de Crecimiento/sangre , Insuficiencia Cardíaca/sangre , Péptido Natriurético Encefálico/sangre , Sistema de Registros , Medición de Riesgo , Volumen Sistólico/fisiología , Función Ventricular Izquierda/fisiología , Enfermedad Aguda , Anciano , Biomarcadores/sangre , Causas de Muerte/tendencias , Femenino , Insuficiencia Cardíaca/mortalidad , Insuficiencia Cardíaca/fisiopatología , Humanos , Masculino , Portugal/epidemiología , Pronóstico , Estudios Prospectivos , Factores de Riesgo , Tasa de Supervivencia/tendencias , Factores de Tiempo
20.
Eur J Case Rep Intern Med ; 5(10): 000944, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30755979

RESUMEN

Boerhaave syndrome is rare, has an non-specific clinical presentation and most commonly develops after persistent vomiting. Septic shock dominates the clinical picture as a result of extensive infection of the mediastinum and pleural and abdominal cavities. The current management of Boerhaave syndrome includes conservative, endoscopic and surgical treatments. The authors present the case of a 94-year-old man admitted to hospital with community-acquired pneumonia with mild respiratory insufficiency complicated by oesophageal perforation after an episode of vomiting and the development of a large left pleural effusion. An endoscopic approach with the placement of an oesophageal prosthesis was chosen given the advanced age of the patient. The hospital stay was complicated by pleural effusion infection requiring broad-spectrum antibiotics and prosthesis substitution. The patient was discharged after 60 days of hospitalization, without the need for oxygen supplementation, and scoring 80% on the Karnofsky Performance Status Scale. The increase in average life expectancy requires a case-by-case approach, where the benefits of invasive manoeuvres and likelihood of discharge are weighed against an acceptable quality of life, aiming to prevent futile medical treatment. LEARNING POINTS: Boerhaave syndrome is a complete rupture of the oesophageal wall secondary to a sudden increase in intraluminal oesophageal pressure, often in the lower third and left lateral position of the oesophagus.The management of Boerhaave syndrome depends on the time of diagnosis and clinical presentation and includes conservative, endoscopic and surgical approaches.Curative, aggressive approaches focused on the treatment of disease are often not appropriate for an aging population, hence the need for a case-by-case approach, where the benefits of invasive manoeuvres and likelihood of discharge are weighed against an acceptable quality of life, aiming to prevent futile medical treatment.

SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA