RESUMEN
Primary ciliary dyskinesia (PCD) is a rare hereditary condition characterized by decreased mucociliary clearance of the airways and a compromised reproductive system, resulting in male and female infertility. Several mutations with varied clinical and pathological features have been documented, making diagnosis a challenging process. The purpose of this study is to describe the clinical and pathological features of Portuguese patients with PCD and to examine their genetic variants. A retrospective observational analysis was conducted with patients who were being monitored at a bronchiectasis outpatient clinic in 2022 and had a confirmed or high-likelihood diagnosis of PCD. In total, 17 patients were included in the study, with 12 (66.7%) having PCD confirmed and 5 (29.4%) having a high-likelihood diagnosis. Furthermore, 12 patients were subjected to transmission electron microscopy (TEM), with 7 (58.3%) exhibiting one hallmark defect. Genetic test data was obtained for all 17 patients, with 7 of them (41.2%) displaying a pathogenic/likely pathogenic mutation in homozygosity. To summarize, PCD is an uncommon but significant hereditary illness with consequences regarding morbidity and mortality. Despite the lack of a specific treatment, it is critical to confirm the diagnosis with genetic testing in order to effectively manage the disease and its accompanying disorders.
Asunto(s)
Bronquiectasia , Trastornos de la Motilidad Ciliar , Humanos , Masculino , Femenino , Estudios Retrospectivos , Portugal , Bronquiectasia/diagnóstico , Bronquiectasia/genética , Pruebas Genéticas , Trastornos de la Motilidad Ciliar/diagnóstico , Trastornos de la Motilidad Ciliar/genéticaRESUMEN
OBJECTIVE: Obstructive sleep apnea (OSA) is a common disorder associated with a significant economic burden. Continuous positive airway pressure (CPAP) and auto-titrating positive airway pressure (APAP) are recognized therapeutic options in patients with OSA, although treatment costs are higher with APAP. We conducted a study aimed at evaluating the effectiveness and potential cost savings resulting from the implementation of a protocol guiding the transition to CPAP in OSA patients previously treated with APAP. METHODS: This prospective study included patients with OSA under APAP who were followed up at the Sleep Medicine outpatient clinic of a tertiary referral hospital between January 2019 and January 2021. Treatment was switched to CPAP in patients who met the following criteria: satisfactory adaptation and adherence to APAP, residual apnea-hypopnea index (AHI) of < 5/hour, and no relevant air leaks. APAP and CPAP outcomes were compared and an estimate of the savings obtained by the transition from APAP to CPAP was calculated. RESULTS: Ninety-three patients were included in the study. APAP and CPAP were both effective in correcting obstructive events and improving daytime sleepiness. No significant differences were found regarding treatment adherence and tolerance between both PAP modalities. The selection of fixed-pressure CPAP through 90th or 95th percentile APAP pressure proved to be effective and an alternative strategy to titration polysomnography. At the end of this two-year study, the transition from APAP to CPAP enabled savings of at least 10,353. CONCLUSION: The transition from APAP to CPAP may be an effective, well-tolerated, safe, and cost-saving strategy in patients with OSA.
Asunto(s)
Apnea Obstructiva del Sueño , Humanos , Presión de las Vías Aéreas Positiva Contínua , Análisis Costo-Beneficio , Estudios Prospectivos , Apnea Obstructiva del Sueño/terapiaRESUMEN
INTRODUCTION: To evaluate sleep deprivation and its effects on young physicians in relation to concentration capacity and psychomotor performance. MATERIAL AND METHODS: Eighteen physicians aged 26 - 33 years were divided into 2 groups: non-sleep deprived group (with no night work) and sleep deprived group (minimum 12 hour of night work/week). We applied Pittsburgh Sleep Quality Index to screen the presence of sleep pathology and Epworth Sleepiness Scale to evaluate subjective daytime sleepiness; we used actigraphy and sleep diary to assess sleep hygiene and standard sleep-wake cycles. To demonstrate the effects of sleep deprivation, we applied Toulouse-Piéron's test (concentration test) and a battery of three reaction time tasks after the night duty. RESULTS: Sleep deprived group had higher daytime sleepiness on Epworth Sleepiness Scale (p < 0.05) and during week sleep deprivation was higher (p < 0.010). The mean duration of sleep during the period of night duty was 184.2 minutes to sleep deprived group and 397.7 minutes to non-sleep deprived group (p < 0.001). In the Toulouse-Piéron's test, the sleep deprived group had more omissions (p < 0.05) with a poorer result in concentration (p < 0.05). Psychomotor tests that evaluated response to simple stimuli revealed longer response latency (p < 0.05) and more errors (p < 0.05) in Sleep deprived group; in reaction to instruction test the sleep deprived group showed worse perfection index (p < 0.05); in the fine movements test there was no statistically significant difference between the groups. DISCUSSION: Acute sleep deprivation resulting from nocturnal work in medical professions is associated with a reduction in attention and concentration and delayed response to stimuli. This may compromise patient care as well as the physician's health and quality of life. CONCLUSION: It is essential to study the effects of acute sleep deprivation on the cognitive abilities and performance of health professionals.
Introdução: Avaliar a privação do sono e seus efeitos sobre os jovens médicos relativamente à capacidade de concentração e desempenho psicomotor. Material e Métodos: Dezoito médicos, com idades entre 26 - 33 anos, divididos em dois grupos: grupo sem privação de sono (sem trabalho nocturno) e grupo com privação de sono (no mínimo 12 horas de trabalho nocturno / semana). Aplicámos o Índice de Qualidade de Sono de Pittsburgh para rastrear a presença de patologia do sono e a Escala de Sonolência Epworth para avaliar subjectivamente a sonolência diurna; usamos actigrafia e o diário de sono para avaliar a higiene do sono e os ciclos de sono-vigília. Para demonstrar os efeitos da privação do sono, foi aplicado o teste de Toulouse-Piéron (teste de concentração) e uma bateria de trêstestes de tempo de reação após o período de trabalho nocturno. Resultados: O grupo com privação de sono apresentou maior sonolência diurna na Escala de Sonolência Epworth (p < 0,05) e durante a semana a privação de sono foi maior (p < 0,010). A duração média do sono durante o período de trabalho nocturno foi de 184,2 minutos para o grupo com privação de sono e 397,7 minutos para grupo sem privação de sono (p < 0,001). No teste Toulouse-Piéron o grupo com privação de sono apresentou maior número de omissões (p < 0,05) com um pior resultado no índice de concentração (p < 0,05). Os testes psicomotores que avaliaram a resposta a estímulos simples revelaram maior latência na resposta (p < 0,05) e mais erros (p < 0,05) no grupo com privação de sono; no teste de reacção a instrução o e grupo com privação de sono apresentou pior índice de perfeição (p < 0,05); no teste de movimentos finos não houve diferença estatisticamente significativa entre os grupos. Discussão: A privação de sono aguda resultante do trabalho nocturno em profissões médicas está associada a uma diminuição da atenção e concentração e no atraso de resposta a estímulos. Isto pode comprometer o atendimento ao paciente, bem como a saúde e a qualidade de vida do próprio médico. Conclusão: Ã essencial estudar os efeitos da privação aguda de sono sobre a capacidade cognitiva e de desempenho dos profissionais de saúde.
Asunto(s)
Médicos , Calidad de Vida , Horario de Trabajo por Turnos , Privación de Sueño , Adulto , Atención , Femenino , Humanos , Masculino , Desempeño Psicomotor , SueñoRESUMEN
Genitourinary tuberculosis is the third most common form of extrapulmonary tuberculosis, comprising 4 - 17% of extrapulmonary forms. The authors describe the case of a patient with recurrent urinary tract infections, without isolation of an infectious agent and without symptomatic resolution, despite antibiotic treatment. Imaging exams showed left ureteral stenosis with moderate hydronephrosis. The attempt of retrograde catheterization was impossible so we opted for percutaneous nephrostomy to renal relief. Microbiological urine analysis colleted by that way was positive for Mycobacterium tuberculosis complex. The patient started therapy with classical quadruple therapy and underwent nephrostomy for catheter placement. Despite therapeutic measures the patient required nephrectomy due to nonfunctioning kidney. Genitourinary tuberculosis is a diagnosis that should be considered in the presence of a persistent sterile pyuria.
A tuberculose genito-urinária é a terceira forma mais comum de tuberculose extrapulmonar compreendendo 4 - 17% dos casos extra-pulmonares. Os autores descrevem o caso de uma doente com infecções urinárias de repetição sem isolamento de agente infeccioso e sem resolução das queixas apesar da antibioterapia instituída. Os exames imagiológicos mostraram estenose ureteral com hidronefrose moderada. A tentativa de cateterismo retrógrado foi impossível pelo que se optou pela nefrostomia percutânea para descompressão renal. O exame microbiológico da urina colhido por essa via foi positivo para Micobacterium tuberculosis complex. Iniciou terapêutica antibacilar com esquema quádruplo clássico e realizou uma nefrostomia para colocação de cateter urinário. Apesar da terapêutica instituída a doente necessitou de uma nefrectomia por rim não funcionante. A tuberculose génito-urinária deve ser um diagnóstico a considerar perante a presença de uma piúria estéril persistente.
Asunto(s)
Tuberculosis Urogenital/complicaciones , Infecciones Urinarias/complicaciones , Diagnóstico Tardío , Femenino , Humanos , Persona de Mediana Edad , Índice de Severidad de la Enfermedad , Tuberculosis Urogenital/diagnóstico , Tuberculosis Urogenital/terapia , Infecciones Urinarias/diagnóstico , Infecciones Urinarias/terapiaRESUMEN
INTRODUCTION: Tuberculosis (TB) remains a major global public health problem and 20% of all cases are extrapulmonar. The purpose of this study was to identify risk factors associated with extrapulmonar tuberculosis. METHODS: We carried out a transversal study which included all patients with extrapulmonary tuberculosis registered in a TB reference center in northern Portugal, between January 2008 and January 2012. We evaluated demographic data, comorbidities, BCG vaccination and previous tuberculosis treatments. Multivariable logistic regression was used to identify independent risk factors (p<0.05). RESULTS: Among the 386 patients studied, 260 (67.4%) had pulmonary tuberculosis (PTB) and 126 (32.6%) extrapulmonary TB (EPTB). Age over 40 years old (OR=2.09; 95%CI: 1.29-3.38), female gender (OR=1.63; 95%CI=1.02-2.6) and HIV infection (OR=2.72, 95%CI=1.25-5.93) were independent risk factors for EPTB. Alcoholism (OR=2.22, 95%CI: 1.00-4.95) was associated with higher risk for PTB. Previous liver disease (OR=22.30; 95%IC: 1.89-263.57) was an independent risk factor for peritoneal TB. HIV co-infection (OR=12.97; 95%IC: 1.71-48.42) and the presence of previous TB treatment (OR=7.62; 95%IC: 1.00-57.9) increase the risk of disseminated disease. CONCLUSION: We identified independent risk factors for EPTB. Recognizing risk factors associated with EPTB is essential for suspicion of disease and may help make an accurate diagnosis.
Asunto(s)
Tuberculosis/epidemiología , Adulto , Anciano , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Factores de Riesgo , Tuberculosis/diagnósticoAsunto(s)
Obstrucción de las Vías Aéreas/etiología , Epiglotitis/complicaciones , Respiración con Presión Positiva , Apnea Obstructiva del Sueño/etiología , Anciano , Obstrucción de las Vías Aéreas/diagnóstico , Obstrucción de las Vías Aéreas/fisiopatología , Endoscopía , Epiglotitis/fisiopatología , Humanos , Masculino , Paladar Blando/fisiopatología , Polisomnografía , Apnea Obstructiva del Sueño/rehabilitación , Apnea Obstructiva del Sueño/terapia , Pérdida de PesoRESUMEN
This article has been withdrawn for editorial reasons because the journal will be published only in English. In order to avoid duplicated records, this article can be found at http://dx.doi.org/10.1016/j.rppnen.2014.06.010. The Publisher apologizes for any inconvenience this may cause. The full Elsevier Policy on Article Withdrawal can be found at http://www.elsevier.com/locate/withdrawalpolicy.
RESUMEN
Acute fibrinous and organising pneumonia (AFOP) was recently described as an unusual pattern of diffuse lung disease. Particular characteristics make the differential diagnosis with the well recognised clinical patterns of diffuse alveolar damage, cryptogenic organising pneumonia or eosinophilic pneumonia. The lack of hyaline membranes, the presence of intra-alveolar fibrin, absence of noticeable eosinophils and patchy distribution suggests that AFOP define a distinct histological pattern. The authors describe the case of a woman diagnosed with AFOP after surgical lung biopsy, in association with primary biliary cirrhosis. The patient presented dyspnoea, fatigue, dry cough and thoracic pain. The CT scan showed bilateral patchy infiltrates predominantly in the lower lobes. Flexible bronchoscopy and subsidiary techniques were inconclusive and biopsy through video-assisted thoracoscopic surgery led to anatomopathological diagnosis of AFOP. The patient is having a good clinical response to prednisone.
Asunto(s)
Neumonía en Organización Criptogénica/diagnóstico , Fibrosis Pulmonar/diagnóstico , Enfermedad Aguda , Biomarcadores de Tumor/análisis , Biopsia , Broncoscopía , Neumonía en Organización Criptogénica/terapia , Diagnóstico Diferencial , Femenino , Glucocorticoides/uso terapéutico , Humanos , Mediciones del Volumen Pulmonar , Persona de Mediana Edad , Prednisona/uso terapéutico , Fibrosis Pulmonar/terapia , Pruebas de Función Respiratoria , Cirugía Torácica Asistida por Video , Tomografía Computarizada por Rayos XRESUMEN
Cyclodextrins (CDs) are used in oral pharmaceutical formulations, by means of inclusion complexes formation, with the following advantages for the drugs: (1) solubility, dissolution rate, stability, and bioavailability enhancement; (2) to modify the drug release site and/or time profile; and (3) to reduce or prevent gastrointestinal side effects and unpleasant smell or taste, to prevent drug-drug or drug-additive interactions, or even to convert oil and liquid drugs into microcrystalline or amorphous powders. A more recent trend focuses on the use of CDs as nanocarriers, a strategy that aims to design versatile delivery systems that can encapsulate drugs with better physicochemical properties for oral delivery. Thus, the aim of this work was to review the applications of the CDs and their hydrophilic derivatives on the solubility enhancement of poorly water-soluble drugs in order to increase their dissolution rate and get immediate release, as well as their ability to control (to prolong or to delay) the release of drugs from solid dosage forms, either as complexes with the hydrophilic (e.g., as osmotic pumps) and/or hydrophobic CDs. New controlled delivery systems based on nanotechnology carriers (nanoparticles and conjugates) have also been reviewed.
Asunto(s)
Ciclodextrinas/química , Portadores de Fármacos , Nanopartículas , Nanotecnología , Preparaciones Farmacéuticas/administración & dosificación , Tecnología Farmacéutica/métodos , Administración Oral , Química Farmacéutica , Preparaciones de Acción Retardada , Composición de Medicamentos , Interacciones Hidrofóbicas e Hidrofílicas , Cinética , Preparaciones Farmacéuticas/química , SolubilidadRESUMEN
Primary neuroendocrine tumours (carcinoid tumours) account for about 4% of anterior mediastinal tumours concerning thymus localization. They appear to have a male predilection (3:1 ratio) and occur mostly between 40 and 60 years of age. Classified primarily as thymomas, they have been considered a different group of thymic neoplasia since 1972. They can be biologically active, mostly associated with MEN -1 (19 -25% of patients and more aggressive in these cases). As a locally invasive disease, with recurrence and metastasis in a high percentage of cases, it correlates with a poor prognosis. Staging is the most important determinant of survival. Encapsulated tumours diagnosed in early stages have an excellent prognosis, while locally invasive tumours in more advanced stages have a relatively poor prognosis as happens with thymomas. Complete surgical removal is the critical factor for long -term survival rates and the basis for treatment of all thymic tumours, independent of histologic type. As an important cause of death, especially in carcinoid tumours associated with MEN -1 and Cushing's syndrome, some authors advocate the need for profilactic thymectomy in these patients.