Guanidinoactetate methyltransferase deficiency should be considered in patients with unexplained intellectual disability, and urinary guanidinoacetate should be determined as an initial diagnostic approach.

Patient-v entilator asynchrony (PVA) is a mismatch between the patient, regarding time, flow, volume, or pressure demands of the patient respiratory system, and the ventilator, which supplies such demands, during mechanical ventilation (MV). It is a common phenomenon, with incidence rates ranging from 10% to 85%. PVA might be due to factors related to the patient, to the ventilator, or both. The most common PVA types are those related to triggering, such as ineffective effort, auto-triggering, and double triggering; those related to premature or delayed cycling; and those related to insufficient or excessive flow. Each of these types can be detected by visual inspection of volume, flow, and pressure waveforms on the mechanical ventilator display. Specific ventilatory strategies can be used in combination with clinical management, such as controlling patient pain, anxiety, fever, etc. Deep sedation should be avoided whenever possible. PVA has been associated with unwanted outcomes, such as discomfort, dyspnea, worsening of pulmonary gas exchange, increased work of breathing, diaphragmatic injury, sleep impairment, and increased use of sedation or neuromuscular blockade, as well as increases in the duration of MV, weaning time, and mortality. Proportional assist ventilation and neurally adjusted ventilatory assist are modalities of partial ventilatory support that reduce PVA and have shown promise. This article reviews the literature on the types and causes of PVA, as well as the methods used in its evaluation, its potential implications in the recovery process of critically ill patients, and strategies for its resolution.

Increases in serum urea nitrogen and creatinine and decrease in eGFR are probably due to difficulties by older kidneys in metabolizing the supplemented protein sources. Although not clinically significant, those alterations impose a rigorous control on the evaluation parameters of renal function during oral L-Gln supplementation, with doses of 0.5 g kg(-1) d(-1) in middle-aged and elderly individuals.

Rut-bpy is a novel nitrosyl-ruthenium complex releasing NO into the vascular system. We evaluated the effect of Rut-bpy (100 mg/kg) on a rat model of brain stroke. Forty rats were assigned to four groups (Saline solution [SS], Rut-bpy, SS+ischemia-reperfusion [SS+I/R] and Rut-bpy+ischemia-reperfusion [Rut-bpy+I/R]) with their mean arterial pressure (MAP) continuously monitored. The groups were submitted (SS+I/R and Rut-bpy+I/R) or not (SS and Rut-bpy) to incomplete global brain ischemia by occlusion of the common bilateral carotid arteries during 30 min followed by reperfusion for further 60 min. Thirty minutes before ischemia, rats were treated pairwise by intraperitoneal injection of saline solution or Rut-bpy. At the end of experiments, brain was removed for triphenyltetrazolium chloride staining in order to quantify the total ischemic area. In a subset of rats, hippocampus was obtained for histopathology scoring, nitrate and nitrite measurements, immunostaining and western blotting of the nuclear factor- κB (NF-κB). Rut-bpy pre-treatment decreased MAP variations during the transition from brain ischemia to reperfusion and decreased the fractional injury area. Rut-bpy pre-treatment reduced NF-κB hippocampal immunostaining and protein expression with improved histopathology scoring as compared to the untreated operated control. In conclusion, Rut-bpy improved the total brain infarction area and hippocampal neuronal viability in part by inhibiting NF-κB signaling and helped to stabilize the blood pressure during the transition from ischemia to reperfusion.

The oil-resin of copaíba presents discrete antilipoperoxidation action, intense antioxidant action, and antiinflammatory activity during the ischemia and reperfusion of randomized cutaneous flaps. The effects of ischemia-reperfusion are complex and substances capable of increasing the tolerance of tissue to those effects by reducing the production or neutralizing the action of free radicals are needed.

Our study describes the adult clinical and biochemical spectrum of guanidinoacetate methyltransferase (GAMT) deficiency, a recently discovered inborn error of metabolism. The majority of the previous reports dealt with pediatric patients, in contrast to the present study. A total of 180 institutionalized patients with a severe mental handicap were investigated for urine and plasma uric acid and creatinine. Patients with an increased urinary uric acid/creatinine ratio and/or decreased creatinine were subjected to the analysis of guanidinoacetate (GAA). Four patients (three related and one from an unrelated family) were identified with GAMT-deficiency. A fifth patient had died before a biochemical diagnosis could be made. They all had shown a normal psychomotor development for the first year of life, after which they developed a profound mental retardation. Three out of four had convulsions and all four totally lacked the development of speech. Their GAMT activity in lymphoblasts was impaired and two novel mutations were identified: the 59 G > C and 506 G > A missense mutations. Urinary GAA was increased, but highly variable 347-1,624 mmol/mol creat (Controls <150 mmol/mol creat). In plasma and CSF the GAA levels were fairly constant at 17.3-27.0 mumol/L (Controls 1.33-3.33) and 11.0-12.4 mumol/L, respectively (Controls 0.068-0.114). GAMT deficiency in adults is associated with severe mental retardation and absence or limited speech development. Convulsions may be prominent. The nonspecific nature of the clinical findings as well as the limited availability of GAA assays and/or in vivo magnetic resonance spectroscopy of the brain may mean that many more patients remain undiagnosed in institutions for persons with mental handicaps.

Background: The digital Auto-Trak™ system is a technology capable of automatically adjusting the triggering and cycling mechanisms during pressure support ventilation (PSV). Objective: To compare Auto-Trak with conventional settings in terms of patient-ventilator synchrony and discomfort. Methods: Twelve healthy volunteers underwent PSV via the mouth by breathing through an endotracheal tube. In the conventional setting, a pressure support of 8 cm H₂O with flow cycling (25% peak inspiratory flow) and a sensitivity of 1 cm H₂O was adjusted. In Auto-Trak the triggering and cycling were automatically set. Discomfort, effort of breathing, and the asynchrony index (AI) were assessed. In a complementary bench study, the inspiratory and expiratory time delays were quantified for both settings in three mechanical models: ‘normal', obstructive (COPD), and restrictive (ARDS), using the ASL 5000 simulator. Results: In the volunteer study the AI and the discomfort scores did not differ statistically between the two settings. In the bench investigation the use of Auto-Trak was associated with a greater triggering delay in the COPD model and earlier expiratory cycling in the ARDS model but with no asynchronic events. Conclusions: Use of the Auto-Trak system during PSV showed similar results in comparison to the conventional adjustments with respect to patient-ventilator synchrony and discomfort in simulated conditions of invasive mechanical ventilation.

Evaluación neurofuncional de pacientes con hanseniasis RESUMOObjetivo: Investigar as alterações neurofuncionais apresentadas pelos pacientes com hanseníase, buscando também identificar seu perfil socioeconômico e clínico. Métodos: Estudo transversal com 51 pacientes adultos diagnosticados com hanseníase, independentemente do sexo, realizado em centro de referência, em 2010, no qual se aplicou a ficha de "avaliação neurológica simplificada" e um questionário (dados socioeconômicos e clínicos). Achados apresentados de forma descritiva. Resultados: Encontrou-se média de idade de 46,4 ± 14,9 anos, 32 (62,7%) pacientes do sexo masculino, 32 (62,7%) com ensino fundamental incompleto e 37 (72,5%) com renda familiar de 1 a 3 salários mínimos. O tempo médio em tratamento era de 14,4 ± 15,63 meses. Dominou a hanseníase do tipo multibacilar (n=18/35,3%) e a forma tuberculoide (n=11/21,6%). Articulações interfalangeanas em membros superiores e inferiores comprometidas em 5 (9,8%) e 6 (11,7%) pacientes, respectivamente. Nervos mais acometidos: tibial posterior em 19 (37,3%), ulnar em 17 (33,3%) e fibular comum em 13 (25,5%) pacientes. Músculos com déficits: extensor do hálux (n=8/15,7%), extensor dos artelhos (n=6/11,8%) e abdutor do 5º dedo (n=6;11,8%). Observou-se que 35 (68,6%) pacientes tinham alterações sensitivas em membros inferiores e 14 (27,5%) apresentavam incapacidade funcional grau 1. Conclusão: O estudo evidenciou o perfil socioeconômico dos pacientes com hanseníase como sendo homens, de baixa escolaridade e renda, com classificação operacional multibacilar apresentando a forma clínica tuberculoide. Na avaliação neurofuncional, houve maior ocorrência de alterações sensitivas sobre as motoras, como também discreta presença de deformidades e elevado grau de incapacidade funcional. Descritores