Resting energy expenditure in argininosuccinic aciduria and in other urea cycle disorders.

No data are available on the specific energy needs of patients affected with Urea Cycle disorders (UCD) and especially argininosuccinic aciduria (ASA). In our experience, ASA patients tend to develop central adiposity and hypertriglyceridemia when treated with apparently adequate energy intake, while the other UCD do not. The aim of this study was to evaluate anthropometric parameters, body composition, risk of metabolic syndrome (MS) and resting energy expenditure (REE), both by indirect calorimetry (IC) and predictive equations, in UCD patients. Hypertension (5/13), pathological waist circumference-to-height ratio (WtHr) (6/13), hypertriglyceridemia (12/13), reduced HDL cholesterol (12/13), and MS (5/13) were found in ASA group. In the ASA cohort, the mean and median IC-REE were 88% of what was predicted by Food and Agriculture Organization of the United Nations and Harris-Benedict equations. The "other UCD" cohort did not show hypertension, dyslipidaemia nor MS; IC-REE was similar to the REE predicted by equations. A significant difference was seen for the presence of hypertension, dyslipidaemia, pathological WtHr, MS and IC-REE/predictive equations-REE in the two cohorts. ASA patients have a risk of overfeeding if their energy requirement is not assessed individually with IC. Excessive energy intake might increase the cardiovascular risk of ASA patients. We suggest to test ASA individuals with IC every year if the patient is sufficiently collaborative. We speculate that most of the features seen in ASA patients might depend on an imbalance of Krebs cycle. Further studies are needed to verify this hypothesis.

Quality of Life of Adult Survivors After Extra Corporeal Membrane Oxygenation (ECMO): A Quantitative Study.

INTRODUCTION: Extracorporeal Membrane Oxygenation (ECMO) is a technique used in the treatment of patients with severe respiratory failure. A lot of studies in the literature investigated the survival rate of patients treated with ECMO, but few are those that assess the long-term outcomes and the quality of life (QoL) of survivors. MATERIALS AND METHODS: A retrospective observational study with prospective QoL assessment through administration of the questionnaire EuroQol-5 Dimension was conducted in acute respiratory distress syndrome patients who h ad ECMO as a rescue therapy for reversible refractory hypoxemia from January 2013 until December 2015 in an Italian referral ECMO center. RESULTS: Forty patients were enrolled, but the telephone interview was possible only in 17. The interviewed patients presented a reduction in QoL in the items concerning pain (59%), followed by problems regarding mobility (47%) and anxiety (47%). The patients' perceived QoL, showed in a 0 to100 scale (0 being the worst, 100 being the best value), is of 75% (interquartile range, 70-80). DISCUSSION: The problems found are in agreement with the literature about this particular type of patients. CONCLUSION: Most ECMO patients have good physical and social functioning after hospital discharge.

[Risk factors for delirium in intensive care unitin liver transplant patients]. / Fattori di rischio per l'insorgenza di delirium in terapia intensiva nei pazienti sottoposti a trapianto di fegato.

. Risk factors for delirium in intensive care unit in liver transplant patients. INTRODUCTION: Delirium is a disorder of the state of consciousness characterized by acute onset and temporal variability of cognitive abilities. It is frequent in intensive care unit (ICU) and it is associated with worst outcomes. AIM: To identify risk factors for the development of delirium in patients in intensive care unit (ICU) after orthotopic liver transplantation (OLTx). METHODS: Observational retrospective study on all the patients undergoing OLTx between January 2014 and December 2015. The daily assessment for delirium was performed with the Confusion Assessment Method for the Intensive Care Unit (CAM-ICU), by nemed nurses. RESULTS: Of the 123 patients included, 15 (12.2%) developed post-operative delirium. The main risk factor was preoperative hepatic encephalopathy (OR = 8.80, 95% CI 2.70-28.59): the deterioration of the state of consciousness (GCS pre-OLTx score < 15) increased the risk of developing delirium (OR 6.18; IC 95% 1.51 - 25.31). A high Acute Physiologic and Health Evaluation (APACHE II) score (OR=1.29, IC 95%: 1.12-1.47) showed how patients with a more severe clinical situation at ICU admission were more likely to develop delirium. CONCLUSIONS: The risk factors identified predict the development of delirium in ICU. Its prevention with the implementation of pharmacological or other strategies may reduce the onset of delirium and improve the quality of care.

Enzymatic replacement therapy for Hunter disease: Up to 9 years experience with 17 patients.

Hunter disease is an X-linked lysosomal storage disorder characterized by progressive storage of glycosaminoglycans (GAGs) and multi-organ impairment. The central nervous system (CNS) is involved in at least 50% of cases. Since 2006, the enzymatic replacement therapy (ERT) is available but with no effect on the cognitive impairment, as the present formulation does not cross the blood-brain barrier. Here we report the outcome of 17 Hunter patients treated in a single center. Most of them (11) started ERT in 2006, 3 had started it earlier in 2004, enrolled in the phase III trial, and 3 after 2006, as soon as the diagnosis was made. The liver and spleen sizes and urinary GAGs significantly decreased and normalized throughout the treatment. Heart parameters improved, in particular the left ventricular mass index/m(2) decreased significantly. Amelioration of hearing was seen in many patients. Joint range of motion improved in all patients. However, no improvement on respiratory function, eye, skeletal and CNS disease was found. The developmental quotient of patients with a CNS involvement showed a fast decline. These patients were no more testable after 6 years of age and, albeit the benefits drawn from ERT, their quality of life worsened throughout the years. The whole group of patients showed a consistent residual disease burden mainly represented by persistent skeletal disease and frequent need of surgery. This study suggests that early diagnosis and treatment and other different therapies which are able to cross the blood-brain barrier, might in the future improve the MPS II outcome.

Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III.

Glycogenosis type III (GSD III) is an autosomal recessive disorder due to amylo-1,6-glucosidase deficiency. This disease causes limit dextrin storage in affected tissues: liver, skeletal muscles, and heart in GSD IIIa and only liver in GSD IIIb. Cardiomyopathy is quite frequent in GSD IIIa with variable severity and progression of manifestations. It is not clear if diet manipulation may interfere with cardiomyopathy's progression. Recent case reports showed improvement of cardiomyopathy following a ketogenic diet.Two siblings (girl and boy), 7- and 5-year-old, both affected with GSD IIIa, developed severe and rapidly worsening left ventricular hypertrophy in the first years of life, while treated with frequent diurnal and nocturnal hyperproteic meals followed by orally administered uncooked cornstarch. Subsequently they were treated with high-fat (60%) and high-protein (25%), low-carbohydrate (15%) diet. After 12 months exertion dyspnea disappeared in the girl and biochemical blood tests, cardiac enzymes, and congestive heart failure markers improved in both (CK 3439→324, 1304→581 U/L; NT-proBNP 2084→206, 782→135 pg/mL, respectively); ultrasound assessment in both patients showed a relevant reduction of the thickness of interventricular septum (30→16, 16→11 mm, respectively) and left ventricle posterior wall (18→7, 13→8 mm, respectively) and an improvement of the outflow obstruction. A diet rich in fats as well as proteins and poor in carbohydrates could be a beneficial therapeutic choice for GSD III with cardiomyopathy. Future research is needed to confirm the beneficial effect of this treatment and to design treatment strategies with the aim to provide alternative source of energy and prevent glycogen accumulation.

Is the prevalence of overweight reducing at age 5-6 years? Ten years data collection in ASL Milano 2.

BACKGROUND: Prevalence of overweight and obesity has been reported as high even in preschool age children. However, recent international reports suggest that prevalence is now plateauing in pediatric age. Up to now no data are available on prevalence changes in Italy in the new Millennium. Aim of the study was to describe changes of overweight and obesity prevalence during the last decade in 5-6 y children in a large Health Unit in Northern Italy. METHODS: The Health Report n 8, used at 5-6 y and containing body mass index (BMI), was utilized for prevalence estimation from 2002 to 2011 according to BMI cut-offs proposed by Cole et al. RESULTS: Overweight and obese children progressively decreased during the study period (p 0.0002) with a minimum observed in 2011, showing a cumulative frequency of 23.1% in 2002 and of 16.6% in 2011 (-6.5%). Mean BMI values progressively decreased with time so that BMI values in 2010-2011 were significantly lower than in 2002-2003 (p < 0.0001). Underweight subjects increased with time (p 0.013), from 8.2% in 2002 to 9.9% in 2011, but grade 3 underweight (i.e., severe thinness) did not increase during the study period. In years 2010 plus 2011, not Italians children showed higher percentages of underweight (12.5%) and overweight plus obesity (23.5%) respect to Italian peers (9.0% and 18.1%, respectively, p values <0.01 and 0.0029). CONCLUSIONS: This is the first report suggesting a possible decrease of overweight and obesity at 5-6 y in Italy in the last decade. As the study focused only on 5-6 y children, we don't know if the true overweight prevalence in pediatric age is really reducing or the starting age of overweight status is simply delayed. The higher risk for malnutrition, both for excess or defect, found in our Area in not Italian children respect to Italian peers, strongly suggests to implement weight control especially for those children. Our finding needs further confirm studies but seems encouraging for true prevention of such condition.

NAVIGATED VERSUS MECHANICAL KNEE REPLACEMENT: COMPARISON BETWEEN INITIAL NAVIGATED AND CONVENTIONAL CASES PERFORMED BY THE SAME SURGEON.

OBJECTIVE: The postoperative mechanical axis in 36 cases of total knee arthroplasty using navigated and mechanical alignment systems was evaluated and compared. All the operations were performed over the same period by the same surgeon and team, who were beginners in the navigated technique and experienced in the mechanical technique. METHODS: Between 2008 and 2010, 36 total knee prostheses were performed and compared: 25 navigated and 11 mechanical procedures. Any deviation from the axis measured on the panoramic postoperative X-ray was considered positive. RESULTS: The navigated prostheses produced a mean axis deviation of 1.32 degrees and standard deviation of 1.57 degrees and the mechanical, respectively 3.18 and 2.99 degrees. There was better alignment with a tendency towards a statistical difference favoring the navigated technique. CONCLUSION: There were significantly more cases with axis deviation greater than three degrees using the mechanical technique. The navigated technique was incorporated by this team without additional complications and, even without experience of navigated surgery, the initial cases achieved better alignment than with the mechanical technique, and a significantly smaller number of outliers from the three-degree safety zone.

Artroplastia do joelho navegada x mecânica: comparação entre casos iniciais de navegação e convencionais pelo mesmo cirurgião / Navigated versus mechanical knee replacement: comparison between initial navigated and conventional cases performed by the same surgeon

OBJETIVO: Foram avaliados e comparados os eixos mecânicos pós-operatórios de 36 artroplastias totais de joelho pelos sistemas de alinhamento navegado e mecânico feitos no mesmo período pelo mesmo cirurgião e equipe, iniciantes na técnica navegada e com experiência na técnica mecânica. MÉTODOS: Entre 2008 e 2010, 36 próteses totais de joelho foram executadas e comparadas, 25 navegadas e 11 mecânicas. Qualquer desvio de eixo medido no RX panorâmico pós-operatório foi considerado positivo. RESULTADOS: As próteses navegadas obtiveram média de desvio de eixo de 1,32 graus e desvio padrão de 1,57 graus e as mecânicas, respectivamente, 3,18 e 2,99 graus. Houve um melhor alinhamento com tendência à diferença estatística em favor da técnica navegada. CONCLUSÃO: Os casos com desvio de eixo maior que três graus foram significativamente maiores na técnica mecânica. A técnica por navegação foi incorporada por nossa equipe sem complicações adicionais e, mesmo sem experiência em cirurgia navegada, os primeiros casos obtiveram melhor alinhamento em relação à técnica mecânica e número significativamente menor de casos fora da zona de segurança de três graus em relação ao eixo mecânico.

OBJETIVE: The postoperative mechanical axis in 36 cases of total knee arthroplasty using navigated and mechanical alignment systems was evaluated and compared. All the operations were performed over the same period by the same surgeon and team, who were beginners in the navigated technique and experienced in the mechanical technique. METHODS: Between 2008 and 2010, 36 total knee prostheses were performed and compared: 25 navigated and 11 mechanical procedures. Any deviation from the axis measured on the panoramic postoperative X-ray was considered positive. RESULTS: The navigated prostheses produced a mean axis deviation of 1.32 degrees and standard deviation of 1.57 degrees and the mechanical, respectively 3.18 and 2.99 degrees. There was better alignment with a tendency towards a statistical difference favoring the navigated technique. CONCLUSION: There were significantly more cases with axis deviation greater than three degrees using the mechanical technique. The navigated technique was incorporated by this team without additional complications and, even without experience of navigated surgery, the initial cases achieved better alignment than with the mechanical technique, and a significantly smaller number of outliers from the three-degree safety zone.