Medicine
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Multicenter Study
Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.
Treatment with nitisinone (NTBC) has brought about a drastic improvement in the treatment and prognosis of hereditary tyrosinemia type I (HT1). We conducted a retrospective observational multicentric study in Spanish HT1 patients treated with NTBC to assess clinical and biochemical long-term evolution. We evaluated 52 patients, 7 adults and 45 children, treated with NTBC considering: age at diagnosis, diagnosis by clinical symptoms, or by newborn screening (NBS); phenotype (acute/subacute/chronic), mutational analysis; symptoms at diagnosis and clinical course; biochemical markers; doses of NTBC; treatment adherence; anthropometric evolution; and neurocognitive outcome. ⋯ Among the 12 variants identified in fumarylacetoacetate hydrolase gene, 1 of them novel (H63D), the most prevalent in Spanish population is c.554-1 G>T. After NTBC treatment a reduction in tyrosine and alpha-fetoprotein levels was observed in all the study groups, significant for alpha-fetoprotein in no NBS-group (P = .03), especially in subacute/chronic forms (P = .018). This series confirms that NTBC treatment had clearly improved the prognosis and quality of life of HT1 patients, but it also shows frequent cognitive dysfunctions and learning difficulties in medium-term follow-up, and, in a novel way, a high percentage of overweight/obesity.
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Muscular fatigue is caused by biochemical alterations that modify the mechanics of muscle contraction, resulting in negative changes in the performance of the contraction. Several resources are studied to mitigate this situation among which we can cite low-level laser therapy (LLLT). The effects of LLLT are being studied in healthy subjects with fibromyalgia and who are athletes, and currently the studies are being performed in spastic muscles with poststroke individuals. The aim will be to evaluate the effects of LLLT on the fatigue of the biceps brachii muscle of healthy individuals and individuals with spastic hemiparesis. ⋯ A cross-sectional, comparative, randomized, placebo, double-blind clinical trial will be divided into 2 phases: phase I shall consist of 30 healthy subjects and phase II of 30 poststroke individuals. The study will consist of 3 groups (control group, placebo group, and LLLT group), and all individuals will pass through all groups, following the randomization criteria. The protocol consists of the application of LLLT in the biceps brachii muscle on the dominant side in healthy individuals and in the hemiparetic side of poststroke individuals, and, subsequently, 3 maximal isometric voluntary contractions (MIVCs) will be performed for 50 seconds in the dynamometer, with an interval of 50 seconds between them. Pain intensity will be evaluated by means of the visual analog scale, and the myoelectric activity by means of surface electromyography associated with the evaluation of muscular strength by means of the dynamometer. The local temperature will be evaluated by infrared thermography and blood lactate concentration through the lactimeter, which will be measured at 4 different times, before the application of the laser (basal), and 3, 15, and 25 minutes after the MIVC.
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Halitosis is an unpleasant odor that emanates from the mouth. Studies show halitosis returns in a week, after treatment with PDT. Probably, bacteria living in the periodontal sulcus could recolonize the dorsum of the tongue. Until nowadays, there are no study in adult population that associates halitosis and periodontal treatment with follow-up evaluation. The aim of this randomized, controlled, single-blinded clinical trial is to treat oral halitosis in healthy adults with photodynamic therapy (PDT), associated with periodontal treatment and follow them up for 3 months. PATIENT CONCERNS:: the concerns assessments will be done over the study using anamnesis interviews and specific questionnaire. DIAGNOSES:: halitosis will be evaluated by OralChroma. ⋯ This protocol received approval from the Human Research Ethics Committee of Universidade Nove de Julho (certificate number: 3.257.104). The data will be published in a peer-reviewed periodical.
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An international consensus for rheumatoid arthritis (RA) patients at risk of developing interstitial lung disease (ILD) is still lacking. The aims of study were to evaluate: the prevalence of ILD involvement in RA over high-resolution computed tomography (HRCT); the relationships between pulmonary function tests (PFTs), patient-centered measurements, and ILD; and the potential risk factors contributing to RA-ILD patients. Data regarding the clinical characteristics (age, sex, age at onset of RA), laboratory findings (rheumatoid factor [RF] and anti-citrullinated protein antibodies [ACPA]), respiratory functional assessment (forced vital capacity [FVC] and carbon monoxide diffusion capacity [DLCO]), patient-centred measures of dyspnea (PCMD), Health Assessment Questionnaire-Disability Index (HAQ-DI), and HRCT have collected retrospectively. ⋯ Advanced age (P < .0001), age at RA onset (P = .025), ACPA titer (P = .004), and smoking (P = .008) were independent explanatory variables of HRCT damage in multivariate analysis. The RA-ILD is associated with age and older age of RA onset, smoking, and ACPA titer. DLCO seems to be the most sensitive parameter to predict ILD on HRCT, followed by PCMD.