Frailty of the elderly in orthopaedic surgery and body composition changes: the musculoskeletal crosstalk through irisin.

In recent years, scientific interest has been developed towards irisin, a novel molecule of the family of myokines, which is directly involved in body mass composition balance, chronic diseases susceptibility and physiologic resilience to stressful events, including surgery. In the context of musculoskeletal disease, the role of this molecule has been associated to the balance of lean and fatty mass, and the production of irisin is subordinated to a healthy lifestyle and exercise. The mechanism of action of irisin on tissues is complex, and several studies described the molecular pathways in animal model and human subjects. In particular, in adipose cells, the key-role of irisin is to stimulate the differentiation of white adipose tissue to brown adipose tissue, through the action on the uncoupling protein 1. Furthermore, in the bony tissue, irisin stimulates osteogenesis through expression of Sost and Opn genes. These features make irisin a suitable molecule to use as a biomarker of the overall musculoskeletal health of the elderly, before undergoing orthopaedic surgery. Further research on this topic should be carried out to highlight the possible clinical role and predictive value of irisin in a multidisciplinary approach to the elderly before musculoskeletal surgery.

Assessment of pN-GAL as a marker of renal function in elite cyclists during professional competitions.

Glomerular filtration rate (GFR) has been shown to be lower than physiological values during exercise with a strong negative correlation with exercise intensity. Among new markers of renal function, neutrophil gelatinase-associated lipocalin (NGAL) seems to be very promising. It is an early, sensitive and specific marker of acute kidney injury (AKI) with two isoforms: plasma NGAL (pNGAL) and urinary NGAL (uNGAL). The aim of the present study was to assess acute variations in NGAL plasma levels after performing high endurance physical exercise in a group of professional cyclists during the two major European professional cycling competitions (Giro D'Italia and Tour de France). Eighteen professional cyclistis were recruited for the study. A blood sample was collected during rest (after 8 hours fasting) and immediately after the competition (mountain stages) in order to assess the effect of very intense exercise on kidney function by measuring the variations of pNGAL. We also assessed plasma levels of creatinine, creatine-kinase (CK), LDH, transaminases and electrolytes. The results showed that Creatinine, CK and electrolytes levels remained almost stable between rest and post-competition. The levels of transaminases and NGAL showed a mild increase between rest and post-competition, with a significant difference between the two values only for transaminases (p=0.005). However, post-competition values of all investigated variables remained within the physiological range. The results of the present study suggest that even if NGAL values mildly rose after competition, no kidney injury occurred in these highly trained athletes during mountain stages of professional competitions. Other studies in literature confirmed that high endurance physical exercise seems not to cause renal injury in elite athletes. This is probably due to adaptive mechanisms of renal function and to the adaptation to physical stress gained with training.

Italy introduces pre and post operation monitoring phases for offshore seismic exploration activities.

Concern is growing that marine fauna can be affected by noise such as naval sonar, pile driving or geophysical surveys, among others. Literature reports a variety of animal reactions to human noise (from apparently null or negligible to strong). However, conclusive results on its effects on marine mammals at individual and population level are still lacking. In 2015, the Italian Environmental Impact Assessment Commission mandated seismic operators apply a standard scientific protocol comparing marine mammal presence before, during, and after offshore seismic survey. For 60days before and after the survey, marine mammals are monitored using visual and acoustic methods. One or more acoustic autonomous recorders, depending on area size, must also be deployed throughout the three phases for continuous monitoring. Consistent data gathered from many surveys will enable robust statistical analysis of results. Diffusion of this monitoring method internationally would improve the study of far-reaching, intense, low frequency noise.

Open Latarjet versus arthroscopic Latarjet: clinical results and cost analysis.

PURPOSE: The aim of this study was to compare the clinical results between open and arthroscopic Latarjet and perform a cost analysis of the two techniques. MATERIALS AND METHODS: A systematic review of articles present in PubMed and MEDLINE was performed in accordance with PRISMA guidelines. Studies concerning post-operative outcomes following Latarjet procedures for chronic anterior shoulder instability were selected for analysis. The clinical and radiographic results as well as the costs of the open and arthroscopic techniques were evaluated. RESULTS: Twenty-three articles, describing a total of 1317 shoulders, met the inclusion criteria: 17 studies were related to open Latarjet, and 6 to the arthroscopic technique. Despite the heterogeneity of the evaluation scales, the clinical results seemed very satisfactory for both techniques. We detected a statistically significant difference in the percentage of bone graft healing in favour of the open technique (88.6 vs 77.6 %). Recurrent dislocation was more frequent following open surgery (3.3 % after open surgery vs 0.3 % after arthroscopy), but this finding was biased by the large difference in follow-up duration between the two techniques. The direct costs of the arthroscopic procedure were double in comparison to open surgery (€2335 vs €1040). A lack of data prevented evaluation of indirect costs and, therefore, a cost-effectiveness analysis. CONCLUSIONS: The open and arthroscopic Latarjet techniques showed excellent and comparable clinical results. However, the much higher direct costs of the arthroscopic procedure do not seem, at present, to be justified by a benefit to the patient. LEVEL OF EVIDENCE: III.

Androgens and cardiovascular disease in postmenopausal women: a systematic review.

Androgens play a pivotal role in cardiovascular function and their effects differ between men and women. In postmenopausal women, testosterone replacement within physiological levels is associated with overall well-being. However, a definitive explanation as to how androgens have an impact on cardiovascular health in postmenopausal women and whether they may be used for cardiovascular treatment has yet to be established. With these aims, a systematic review of the existing studies on the link between androgens and cardiovascular disease and the effects of testosterone therapy on cardiovascular outcomes in postmenopausal women has been conducted. The few existing studies on cardiovascular outcomes in postmenopausal women indicate no effect or a deleterious effect of increasing androgens and increased cardiovascular risk. However, there is evidence of a favorable effect of androgens on surrogate cardiovascular markers in postmenopausal women, such as high density lipoprotein cholesterol, total cholesterol, body fat mass and triglycerides. Further studies are therefore needed to clarify the impact of therapy with androgens on cardiovascular health in postmenopausal women. The cardiovascular effect of testosterone or methyltestosterone with or without concomitant estrogens needs to be elucidated.

Functional repair in massive immobile rotator cuff tears leads to satisfactory quality of living: results at 3-year follow-up.

PURPOSE: The aim of this retrospective study was to report clinical results of a selective population undergone to arthroscopic functional repair of massive, contracted, immobile rotator cuff tears. METHODS: From 2005 to 2009, 311 patients with rotator cuff tears were treated at our institution. Of them, 26 shoulders in 25 patients with a mean age of 64 years that presented a massive, contracted immobile tear repaired using an interval slide technique, were included in this study. RESULTS: The mean postoperative follow-up period was 39 months (range 19-70 months). The mean postoperative disabilities of the arm, shoulder and hand (DASH) score and simple shoulder test (SST) score were, respectively, 20.91 and 8.8 (range DASH: 0.83-59.1; range SST: 2-12). Based on single assessment numeric evaluation score, the outcome of surgery was satisfactory with a mean of 76 % (range 0-100 %). The residual level of pain was low, as reported by a final mean visual analog scale score of 1.8 (range 0-8). The mean postoperative range of motion was 157.5° in forward elevation (range 90°-180°) and 55.3° in extra rotation (range 0°-90°). Eleven patients reached mid-back, in 7, the lower back and in 8 cases, upper back. CONCLUSION: Arthroscopic functional repair could be considered an appropriate treatment option in case of massive, contracted and immobile cuff tears. This treatment can provide improvement in pain and function that positively affects patients' quality of life without precluding other, more invasive, eventually consequent solutions.

Association between biological markers of sickle cell disease and cognitive functioning amongst Cameroonian children.

BACKGROUND: Some of the major complications of sickle cell disease (SCD) occur in the brain and apart from overt stroke, patients also present with cognitive impairments. We sought to evaluate the prevalence of cognitive deficits as well as their biological predicting factors in young SCD patients in Cameroon. METHODS: The cognitive performances of Cameroonian SCD young patients were evaluated using a neuropsychological test battery assessing four domains of cognitive functioning (executive functions, attention, memory, and sensory-motor skills) previously adapted and normalized on healthy subjects in Yaoundé. FINDINGS: Up to 37.5% of the 96 SCD patients aged 6 to 24 years (M = 13.5, SD = 4.9) had mild-to-severe cognitive deficits. The cognitive deficits tend to increase with age. There was a significant effect of SCD on executive functions and attention, whereas SCD patients performed as well as controls on memory and sensory-motor skills tests. Structural equation models showed a significant association between (a) severe anemia and lower executive functioning, (b) low fetal hemoglobin levels and lower executive functioning and attention, (c) history of cerebrovascular accidents and lower performances in executive functioning, sensory-motor skills, and memory, (d) pathological electroencephalogram and lower attention, and (e) abnormal Transcranial Doppler and lower memory. CONCLUSION: SCD patients in Cameroon presented a very high prevalence of cognitive deficits, with a specific impairment of executive functions and attention. Routine neuropsychological evaluation for early detection of cognitive deficits in SCD patients could represent a cost-effective tool to implement in resource-limited contexts such as in sub-Saharan Africa.

A self-administered questionnaire to screen the risk of dementia: a pilot study and the results of a comparison with the mini-mental state examination (MMSE).

Cognitive impairment is an age-related condition as the rate of cognitive decline rapidly increases with aging. The aim of this study was to screen the risk of cognitive decline in people over 60 years from 16 different Italian cities, by comparing the results of a self-administered questionnaire with the MMSE. We analyzed data from 203 persons aged 60 years and over, who voluntarily accepted to participate during the "Second Prevention Day for AD". A self-administered questionnaire, developed by clinicians of our Department of Aging, was distributed to all participants, in order to easily screen the risk of cognitive impairment. Then, all subjects underwent cognitive assessment by MMSE. We esteemed the risk of cognitive impairment of all participants basing on MMSE scores (no risk, mild and moderate risk) and we compared this assessment with the results obtained by the self-administered questionnaire. The comparison between the risk of cognitive impairment revealed by our questionnaire and the risk esteemed by MMSE resulted in a discrepancy in 43.96% of cases in no risk class. In mild risk group there was a discrepancy of results in 70.53% of subjects. In moderate risk class there was a discrepancy of results in 38.46% of individuals. Our questionnaire resulted to be accurate for the evaluation of patients with moderate risk of cognitive impairment. It showed a lower accuracy for the mild risk class, often overestimating the risk of cognitive decline.

Atrial fibrillation (AF) and cognitive impairment in the elderly: a case-control study.

AF is able not only to increase the risk of cognitive decline due to acute cerebrovascular events, but also to reduce cardiac output, with the consequence of impaired cerebral perfusion. The aim of this study was to evaluate the association between AF, dementia and depression in patients with negative anamnesis for past strokes. Our sample included 26 patients with a diagnosis of AF (paroxystic, persistent, permanent) and 31 patients with sinus rhythm, enrolled as controls. All selected patients underwent a Multidimensional Geriatric Assessment in order to investigate cognitive and behavioral functions. Statistical analysis of results showed a greater frequency of latent cognitive impairment in patients with AF, even in the absence of memory disorders. As a matter of facts, AF patients showed Mini Mental State Examination (MMSE) scores significantly lower than those with sinus rhythm (p<0.05) and Geriatric Depression Scale (GDS) scores higher than those without AF, evidencing a greater risk of depression too (p<0.02). Results showed a statistically significant association between AF, depression and cognitive impairment in early stage. In conclusion, AF is not only associated with the risk of developing cognitive impairment, but it can also be considered as a risk factor for dementia and depression, even in the absence of medical history of past stroke.

Role of cardiovascular risk factors (CRF) in the patients with mild cognitive impairment (MCI).

Few therapeutic options are available nowadays to improve the prognosis of patients with Alzheimer's disease (AD). There are rather several evidences in literature that controlling vascular risk factors may be an effective intervention for modifying the course of this disease. The aim of our study was to investigate the role of CRF in 50 patients with MCI according to Petersens's criteria, and to evaluate their influence on cognitive and behavioral features of the disease and on the development of dementia. Statistical analysis of the data showed that the 60% of the patients with MCI and CRF developed dementia, while 40% maintained the same cognitive conditions at the end of the study. Only 32% of the subjects without cardiovascular comorbidities developed dementia. The results of the study suggest that CRF play a key role in cognitive decline of patients with MCI. Patients with MCI and CRF showed not only worse cognitive performances, but also behavioral disorders, depression and functional disability. Patients with CRF had higher conversion rate to AD than the other group, with a mean disease-free period 3 months shorter than the control group.

A possible role of atrial fibrillation as a risk factor for dementia.

Atrial fibrillation (AF), which is a very common disease among the elderly, is already well known as a risk factor for arterial thromboembolism and stroke. The attention of medical research is now focused on establishing a possible role of AF in the development of cognitive impairment in order to include this arrhythmia among risk factors for dementia. The aim of this work was to investigate the relationship between AF and various types of dementia, such as vascular dementia (VaD), Alzheimer's disease (AD) and mixed dementia (MD). The study consisted of 71 VaD, AD or MD patients, 31 males and 40 females. The sample has been divided in 2 groups according to the sex, and these two groups have been analyzed separately. In females, a statistically significant association was found between mini mental state examination (MMSE) and clinical dementia rating (CDR) scores and AF occurrence (r=-0.32; p<0.05; r=0.33; p<0.05). On the contrary, no significant linear correlation was found between AF and a lower activities if daily living (ADL) and instrumental activities if daily living (IADL) scores. In males, AF/MMSE, AF/CDR, AF/ADL and AF/IADL variables have not been found to be linearly related to each other. Unexpectedly, AF turned to be associated to AD more often than to VAD, becoming a possible risk factor for this neurodegenerative disease. Our results are supported by many studies in literature attributing a basic role of brain hypoperfusion in sporadic AD patho-genesis. More and more scientific data suggest that the already well known risk factors for AD could be considered just the top of an iceberg, providing powerful arguments for impaired cerebral perfusion as the primary trigger in the development of this disease. Moreover, the mildly favorable treatment response in patients with AD to therapy that improves cerebral blood flow is a consistent finding; the same cannot be said of antiamyloid treatments. This opens new possibilities to find an effective way to treat this dramatic pathology.

Is there a relationship between high C-reactive protein (CRP) levels and dementia?

Inflammation is believed to play a pivotal role in dementia, but its role is still unclear. The aim of our study was to analyze the interplay among markers of inflammation, such as fibrinogen and high CRP levels, and dementia. First, we performed a cross-sectional study comparing markers of inflammation between 99 patients affected by dementia (mean age: 83.0+/-0.6 years) and 99 controls (mean age: 83.9+/-0.7 years). Then, we analyzed the relationship between inflammation and dementia in the same population composed by 34 Alzheimer's disease (AD) patients (mean age: 83.4+/-0.8 years), 64 vascular dementia (VaD) patients (mean age: 82.7+0.8 years) and 99 controls. Patients affected by dementia had higher CRP levels than controls (2.6+/-+/-0.2 vs. 0.7 + 0.1 p < 0.001, respectively). AD patients had higher CRP levels than VaD patients (4.2 + 0.6 vs. 1.7+/-0.2, p < 0.001, respectively). Stepwise multiple logistic regression analysis showed that dementia (odds ratio=OR=4.965, 95% confidence interval=Cl=1.402-13.23, p=0.004), fibrinogen (OR=1.011, Cl=1.007-1.015, p<0.001), and age (OR=1.158, Cl=1.063-1.261, p<0.001) are independently correlated with high levels of CRP. The study suggests that inflammation may have a pathogenetic role in AD.

Ectodermal dysplasia with amastia: a case of one-step reconstruction.

Background. Female patients presenting amastia associated with ectodermal dysplasia are not frequently encountered, but they are of great clinical interest and surgically demanding. Traditionally, skin alterations related to Ectodermal Dysplasia have addressed plastic surgeons to perform a two-stage approach in amastia associated with this congenital pathologic condition. This article describes an alternative method for correcting this deformity trough a mammary reconstruction in one surgical stage. Materials and Methods. We report a case of 26-year-old female patient with bilateral amastia associated with ectodermal dysplasia. Amastia in this patient was treated with implantation of subpectoral silicone gel prostheses, without previously breast tissue expansion. Results. At 18 months of follow-up after surgey, there were no complications and excellent cosmetic results were achieved. Patient and surgeon satisfaction was high and the patient underwent a bilateral areola-tattoo. Conclusions. One-stage mammary reconstruction have showed to be a reliable and effective technique also when amastia is associated with Ectodermal Dysplasia, suggesting a still satisfying biomechanical performance of the skin in this pathology.

Leukocyte perturbation associated with Fabry disease.

Fabry disease is an X-linked lysosomal storage disorder of glycosphingolipid catabolism due to the deficient activity of the enzyme alpha-galactosidase A. The non-degraded substrate, mainly globotriaosylceramide (Galα1-4Galß1-4Glcß1-1Cer; Gb(3)) accumulates progressively in the lysosome of various cells. The aim of this work was to analyse changes in leukocyte subpopulations and surface markers and to determine whether Gb(3) is increased in leukocytes of patients with untreated and treated Fabry disease. Blood samples obtained from 22 male Fabry patients (11 untreated and 11 on enzyme replacement therapy) and 22 normal controls were subjected to flow cytometric analysis of Gb(3) intracellular content, leukocyte subpopulations and cell markers. Based on the fluorescence intensity of bound monoclonal antibody, and relative to normal control leukocytes, Gb(3) appeared significantly increased in lymphocytes (but not in monocytes or granulocytes) from patients with Fabry disease. A significantly higher percentage of lymphocytes and CD19(+) cells and a reduced proportion of monocytes, CD8(+) cells and myeloid dendritic cells were detected in samples from Fabry patients compared with normal controls. CD1d expression was significantly lower and MHC class II surface expression was significantly higher in monocytes from Fabry patients than in normal controls. As previously observed for other adhesion molecules, the expression of CD31 (PECAM) was higher in leukocytes from Fabry patients. In conclusion, the differences recorded in this study reveal a leukocyte perturbation associated with the disease state in Fabry patients, whereas some abnormalities are less marked in treated patients.

Occupational infection due to Brucella abortus S19 among workers involved in vaccine production in Argentina.

The pathological consequences of exposure to the vaccine strain Brucella abortus S19 were evaluated in 30 employees from vaccine-manufacturing plants. Active brucellosis was diagnosed in 21 subjects, of whom only five recalled an accidental exposure. Clinical manifestations were mild, and only one patient presented a complication. After antimicrobial therapy, initially symptomatic patients either experienced clinical remission or had mild persistent symptoms. This is the first study reporting infection by B. abortus S19 among workers from vaccine-manufacturing plants, which in many cases was acquired from unnoticed exposures. Measures to improve the safety of B. abortus S19 handling should be implemented.

Immunochemical characterization of Glycine max L. Merr. var Raiden, as a possible hypoallergenic substitute for cow's milk-allergic patients.

BACKGROUND: Cows' milk allergy (CMA) is the most common cause of food allergy in infancy. The only proven treatment is the complete elimination of cows' milk proteins (CMPs) from the diet by means of hypoallergenic formulas. Soybean-based formulae are widely used although intolerance to soy has been reported to occur in 15-40% of infants with CMA. OBJECTIVE: The aim of this work was to analyse the in vitro reactivity of the soybean cultivar Raiden, which naturally lacks glycinin A(4)A(5)B(3), to evaluate whether this genotype could be a safe CMP substitute for CMA patients. METHODS: The reactivity of conventional soybean (CS) and Raiden soybean (RS) genotypes and also recombinant glycinin A(4)A(5)B(3) and alphabeta-conglycinin with casein-specific monoclonal antibodies and CMP-specific polyclonal serum was evaluated by immunoblotting and ELISA. A sequential competitive ELISA with the polyclonal antiserum and different soluble inhibitors was performed. In addition, an indirect ELISA with sera of atopic children with CMA was carried out to analyse the IgE-binding capacity of the different soybean components. RESULTS: We have shown that CS contains four components that cross-react with CMP, while RS has only one. The remaining cross-reactive component in RS was identified as alpha-subunit beta-conglycinin. By means of inhibitory ELISA, we demonstrated that CS, RS and the alpha-subunit beta-conglycinin extracts inhibited the binding of CMP-specific antibodies to the CMP-coated solid phase. Finally, we showed that CS, RS and the recombinant proteins were recognized by human CMP-specific IgE antibodies. CONCLUSION: This work shows that although Raiden has fewer cross-reactive components than conventional soybean, it still has a residual cross-reactive component: the alpha-subunit beta-conglycinin. This reactivity might make this genotype unsuitable to treat CMA and also explains adverse reactions to soybean in CMA infants.

Correction of cicatricial ectropion by autologous fat graft.

BACKGROUND: Over the past few years, treatment of burn scars with lipofilling has shown encouraging clinical results in terms of texture, color, softness, and quality of skin patterns. This clinical application has been widened to include treatment for scars resulting from surgical correction of cicatricial ectropion. In fact, although standard surgery with flaps and skin grafts can grant significant functional and cosmetic improvements, these often are not complete because of secondary surgical scars. METHODS: The case of a 43-year-old man with cicatricial outcomes from chemical burns and subsequent surgical repair of medial ectropion in the lower eyelid is reported. The scar area was treated with injection of adipose tissue harvested from abdominal subcutaneous fat and processed according to Coleman's technique. RESULTS: At the 1-year follow-up assessment after lipostructure, the patient no longer reported xeroftalmia and epiphora. He had experienced complete functional recovery with excellent cosmetic results. CONCLUSIONS: Lipostructure of cicatricial ectropion seems to complete and improve the results of the standard surgical approach, and its long-lasting benefits are in keeping with the theoretical basis of this procedure.

La función de la eritropoyetina en pacientes sometidos a artroplastia articular electiva y a donación de sangre autóloga preoperatoria / Erythropoyetin in patients undergoing elective joint arthroplasty and preoperative autologous blood donation

Objetivo. El objetivo de este estudio ha sido evaluar si la suplementación con eritropoyetina (EPO) permite una apropiada donación de sangre autóloga previa a una artroplastia electiva de cadera o rodilla, incluso en pacientes con niveles límite de hematocrito (Hcto) y hemoglobina (Hb). Material y método. Desde enero de 2000 hasta diciembre de 2001 fueron incluidos en este estudio 66 pacientes que requirieron artroplastia total de cadera o rodilla, a quienes se había inscrito previamente en un programa de autotransfusión preoperatoria. Los pacientes fueron clasificados en dos grupos teniendo en cuenta sus niveles de Hb: aquéllos con un nivel de Hb < 13 g/dl (grupo 1; 37 pacientes) recibieron EPO (10.000 UI, 3 veces por semana) durante el programa de autotransfusiones, mientras que a aquéllos con un nivel de Hb > 13 g/dl (grupo 2; 29 pacientes) no se les suministró EPO ni antes ni durante el programa de autotransfusión. A los pacientes de ambos grupos se les extrajo sangre una vez por semana durante un período de entre una y tres semanas, administrándoseles además hierro por vía oral. En todos los pacientes se evaluaron los valores de Hb y Hcto antes de la primera extracción de sangre (valores basales), en el período prequirúrgico y al alta, registrándose además la cantidad de sangre recogida y transfundida para cada grupo. Durante el estudio se excluyeron 20 pacientes por no cumplir los criterios de inclusión (grupo 1, n = 12; grupo 2, n = 8). Finalmente, se analizaron estadísticamente los datos correspondientes a 46 pacientes (grupo 1, n = 25; grupo 2, n = 21). Resultados. A pesar de que los valores basales de Hb y Hcto para el grupo 2 fueron significativamente más elevados que para el grupo 1 (p < 0,001), no se observaron diferencias entre ambos grupos en cuanto a sus niveles correspondientes durante el período preoperatorio, el postoperatorio y el momento del alta hospitalaria, ni tampoco en cuanto a la cantidad de sangre recogida y transfundida. Conclusiones. La diferencia en los niveles basales de Hb y Hcto observada entre los dos grupos fue completamente corregida gracias a la administración profiláctica de EPO durante el programa de autotransfusión preoperatoria, el cual se desarrolló de forma adecuada incluso en aquellos pacientes con niveles límite de Hb y Hcto

Purpose. The aim of this study was to determine whether erythropoyetin (EPO) supplementation permits an adequate autologous blood donation prior to elective hip or knee arthroplasty in patients with boundary hematocrit and hemoglobin (Hb) levels. Materials and methods. Between January 2000 and December 2001, sixty-six patients were included in this study who required total hip or knee arthroplasty and who had also been enrolled in a preoperative transfusion program. Patients were classified into two groups, taking into account their hemoglobin levels: those with Hb < 13 g/dl (group 1, 37 patients) received EPO (10.000 IU, 3 times a week) throughout the transfusion program whereas those with Hb > 13 g/dl (group 2, 29 patients) were not given EPO before or during the self-transfusion program. Blood was extracted from patients in both groups once a week for one to three weeks; all patients received oral iron supplementation. In all patients, median hemoglobin and hematocrit values were determined before the first blood extraction (baseline values), during the preoperative period and at discharge; a record was made of the amount of blood extracted and transfused for each group. Twenty patients were excluded during the study since they did not fulfill the inclusion criteria (group 1: n = 12; group 2: n = 8). Lastly, the data corresponding to 46 patients was statistically analyzed (group 1: n = 25; group 2: n = 21). Results. Although the median baseline hemoglobin and hematocrit values for group 2 were significantly higher than those for group 1 (p < 0.001), no differences were observed between both groups regarding their median levels during the preoperative and postoperative periods or at discharge. Nor any differences were observed regarding the amount of blood extracted and transfused. Conclusions. Differences observed in the baseline hemoglobin and hematocrit levels between the two groups were fully resolved thanks to the prophylactic administration of EPO during the preoperative self-transfusion program, which was concluded appropriately even for patients with boundary hemoglobin and hematocrit levels (AU)

A successful approach for the detection of Fabry patients in Argentina.

Fabry disease is an X-linked lysosomal disorder caused by the deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-Gal A). In males, the laboratory diagnosis is based on the demonstration of decreased levels of alpha-Gal A activity, while in females, the disease is diagnosed by the identification of a mutation in alpha-Gal A gene. Fabry disease in Argentina is underdiagnosed. To date, no comprehensive screening study of Fabry disease in our country has been reported. The present study aimed at developing a targeted screening for the detection of Fabry patients from Argentina based on the set of typical signs and symptoms. We received 121 blood samples from probable Fabry patients for enzymatic and genetic assay. We diagnosed six Fabry patients from six unrelated families, representing a yield of detection of 4.96%. The mutations detected in five of the families analysed were missense mutations: p.Leu243Trp, p.Asp155His, p.Leu415Pro, p.Cys94Tyr and p.Leu191Pro. After the detection of a Fabry patient, his/her relatives were also screened. In the course of these family studies, other 64 Fabry patients, 29 males and 35 females, were detected. To our knowledge, this is the first comprehensive screening of Fabry disease in Argentina. We detected 70 patients in a period of 2.5 years. The development of targeted protocols and the constitution of interdisciplinary groups for the identification of patients with Fabry disease are recommended to obtain a higher yield in the process.