Glucose-6-phosphate dehydrogenase deficiency in Italian blood donors: prevalence and molecular defect characterization.

BACKGROUND: In the countries with high G6PD deficiency prevalence, blood donors are not routinely screened for this genetic defect. G6PD deficiency is often asymptomatic, blood donors may be carriers of the deficiency without being aware of it. The aim of the study was to evaluate the prevalence of G6PD deficiency among the Italian blood donors. DESIGN AND METHODS: From October 2009 to April 2011, 3004 blood donors from a large hospital transfusion centre were screened for G6PD deficiency using differential pH-metry and the characterization of G6PD mutations was performed on G6PD-deficient subjects. The haematological features of G6PD-deficient and normal donors were also compared. RESULTS: Thirty-three subjects (25 men and 8 women) with low G6PD activity were identified, corresponding to 1·1% of the examined blood donor population. The frequencies of class II severe alleles (Mediterranean, Valladolid, Chatham and Cassano) and class III mild alleles (Seattle, A- and Neapolis) were 48% and 43%, respectively. The haematological parameters of G6PD- donors were within normal range; however, the comparison between normal and G6PD- class II donors showed significant differences. CONCLUSION: In Italy, the presence of blood donors with G6PD deficiency is not a rare event and the class II severe variants are frequent. The identification of G6PD-deficient donors and the characterization of the molecular variants would prevent the use of G6PD-deficient RBC units when the haemolytic complications could be relevant especially for high risk patients as premature infants and neonates and patients with sickle cell disease submitted to multiple transfusions.

Hamartoma of the breast in a young woman. Case report.

Hamartoma is a benign tumor-like malformation characterized by a focal mixture of mature cells and tissues normally present in affected area. The hamartoma of the breast is rare. We report a case in an asymptomatic young woman coming to our attention for a left breast lesion detected by ultrasound screening.

Outcome and technical consideration of conversion total hip arthroplasty after failed fixation of intracapsular and extracapsular hip fractures: Are they really that different?

INTRODUCTION: Conversion Total Hip Arthroplasty (cTHA) is a rescue strategy for proximal femur osteosynthesis failures. However, it is unclear whether cTHAs performed for extra-capsular fracture fixation failures (ECF) or for intra-capsular fracture fixation failures (ICF) share the same complexity and efficacy. The purpose of our study was to compare cTHAs performed on pre-existing ICFs and pre-existing ECFs, focusing on surgical complications and functional outcomes in both groups. METHODS: An observational retrospective study was conducted on cTHA patients, treated between 2014 and 2018, divided into 2 groups: ICF-group and ECF-group. The main outcomes were: type of implant used, duration of surgery, need for transfusions, incidence of complications, functional outcomes. RESULTS: 28 patients were included (15 in the ECF group and 13 in the ICF group); the average follow-up was of 31 ± 17.3 months. No significant differences were identified in terms of the type of implant used and duration of surgery. The number of transfused patients was 4 in the ICF group and 12 in the ECF group (p = 0.02); the average transfused units were 0.4 ± 0.7 in the ICF group and 1.3 ± 0.9 in the ECF group (p = 0.01). The incidence of complications - an infection and a dislocation, both of which occurred in the ICF group - and functional outcomes did not present significant differences. CONCLUSION: The conversion surgery on ECFs patients is technically more difficult for the surgeon and prone to greater blood loss. The outcomes are satisfactory and overlap between the two groups.

Analysis of the risk of a secondary displacement in conservati- vely treated paediatric distal radius metaphyseal fractures. A multicentric study.

OBJECTIVES: Distal radius fractures represent one of the most fre-quent injuries in children. The treatment of choice is a closed reduction followed by immobilisation in plaster cast; the immediate recourse to osteosynthesis with Kirschner wires is only reserved for certain cases. The displacement rate reported in the literature is 21-39%. The aim of this study is to retrospectively evaluate the risk factors for a secondary displacement of metaphyseal radius fractures in a paediatric population treated in three different centres. MATERIALS AND METHODS: The initial treatment for all 360 patients examined was a closed reduction under general anaesthesia and im-mobilisation in an above elbow cast for 4 weeks. The pre-operative displacement, residual post-reduction displacement and possible di-splacement at 7 and 14 days of follow-up were all assessed clinically and radiographically. RESULTS: A loss of reduction was reported in 102 cases; 51 under-went an additional reduction procedure - some followed by osteo-synthesis - while in the remaining 51 cases, the loss of reduction was acceptable in relation to the expectation of remodelling. The most statistically significant variable for the occurrence of a secondary displacement is a severe primary displacement. The association with the ulna fracture is not significantly correlated. The quality of the plaster cast is important for maintaining the reduction. There are a few things to consider as indicators for a second procedure: age, time elapsed from moment of fracture, fracture site and the absence of an acceptable reduction. CONCLUSIONS: In our experience, a reduction followed by osteo-synthesis with Kirschner wires should be considered the treatment of choice in fractures with a high risk of secondary displacement, namely those with severe initial displacement or unsatisfactory reduction.

The neutrophil/lymphocyte ratio as a prognostic factor in COVID-19 patients: a case-control study.

OBJECTIVE: SARS-CoV-2 (Severe Acute Respiratory Syndrome Coronavirus 2) has been identified in China as responsible for viral pneumonia, now called COVID-19 (Coronavirus Disease 2019). Patients infected can develop common symptoms like cough and sore throat, and, in severe cases, acute respiratory syndrome and even death. To optimize the available resources, it is necessary to identify in advance the subjects that will develop a more serious illness, therefore requiring intensive care.The neutrophil / lymphocyte ratio (NLR) parameter, resulting from the blood count, could be a significant marker for the diagnosis and management of risk stratification. PATIENTS AND METHODS: A retrospective, single-center case-control observational study was conducted. The differential cell count of leukocytes, the NLR and the clinical course of patients hospitalized in intensive care with COVID-19 were analyzed, comparing them with other patients (COVID-19 and non-COVID-19) and healthy individuals selected among workers of the Teaching Hospital Policlinico Umberto I in Rome. RESULTS: 370 patients (145 cases and 225 controls) were included in the case-control study, 211 males (57%) and 159 females (43%). The average age of the population was 63 years (SD 16.35). In the group of cases, out of 145 patients, 57 deaths and 88 survivors were recorded, with a lethality rate of 39.3%. The group of cases has an NLR of 7.83 (SD = 8.07), a much higher value than the control group where an NLR of 2.58 was recorded (SD = 1.93) (p <0.001). The Neutrophils / Lymphocytes ratio may prove to be a diagnostic factor for COVID-19, an NLR> 3.68 revealed an OR 10.84 (95% CI = 6.47 - 18.13) (p <0.005). CONCLUSIONS: The value of NLR considered together with the age variable allows a risk stratification and allows the development of diagnostic and treatment protocols for patients affected by COVID-19. A high neutrophil to lymphocyte ratio suggests worse survival. Risk stratification and management help alleviate the shortage of medical resources and reduce the mortality of critically ill patients.

A proposal of rehabilitative approach in the rare disease "De Barsy Syndrome": case report.

De Barsy syndrome is an autosomal recessive condition characterized by an progeroid appearance with distinctive facial features and cutis laxa. Ophthalmological, orthopedic, and neurological anomalies are generally also present. This syndrome is rare and the complex therapeutic management, from a surgical but also rehabilitative point of view, has not been recognized. The aim of this paper is to describe a possible rehabilitative protocol, after an orthopedic surgical treatment, in a child with De Barsy Syndrome. A 6-year-old boy was born with a congenital bilateral hip dysplasia associated with bilateral congenital foot deformity (vertical talus). Moreover, he showed stereotypic dyskinetic movements and psychomotor delay with cognitive impairment and absent language; the sitting position was maintained with orthoses to support the trunk control and the standing position was not acquired. He was treated with pinstripe knee-highs for the foot and double nappy for the hips. At 19 months old, he underwent a two stage surgical approach for a bilateral pronated valgus foot with severe talonavicular subluxation. Satisfactory hip range of motion was achieved by conservative treatment alone. Afterwards, for the foot laxity and the flat-pronated foot corrective shoes were prescribed. The main rehabilitative goals were: attention improvement, visual exploration for foot-eye and hand-eye coordination, encourage the essential prerequisites of language, controlling the upright position using support, improving hip-knee-foot relationship, improving load transfer between the right and left sides of the body, and bimanual coordination. The rehabilitation process lasted six months, three times a week, for a time from 30 minutes to 60 minutes per session. The results were encouraging and the patient acquired the possibility of sitting with the indicated postural system, the possibility of assuming an upright position and taking a few steps with the aid of rollator with a postural stabilization system for the pelvis.

Beat to beat analysis of mechanical heart valves by means of return map.

Three mechanical heart valves (two bileaflet prostheses and a tilting one) were investigated in a basic hardware setup in order to evaluate with a hydrophone their opening and closing action in time and in amplitude of each beat. The recorded signal was then segmented into the series of cycles xi(t) having a temporal duration equal to the working period imposed on the valve. Two return maps were defined, in order to evaluate the degree of dispersion of the resulting scatter plot: (i) the amplitude map xi(t) versus xi+1(t); (ii) the delay map for the closure of the valve within each beat versus the successive ones. To evaluate the results obtained, two indices were proposed based on both the degree of dispersion and the deviation of the regression line of the resulting scatter plot with respect to the bisector of the map plane. The tilting disc valve showed a lower degree of dispersion, both in the amplitude signal and in the closure time delays, with respect to the other two bileaflet heart valves. The methodology proposed here could be regarded as an alternative non-invasive tool to investigate the dynamic behaviour of prosthetic heart valves, especially in the case of their suspected failure.

[Haemocoagulative modifications correlated with pregnancy]. / Modificazioni emocoagulative correlate allo stato gravidico.

AIM: The aim of this paper was to establish the physiologic changes in the coagulation and fibrinolytic systems during normal pregnancy. METHODS: One-hundred and twenty normal pregnant women were investigated in a longitudinal study involving 3 measurements: blood samples were collected at 12, 24 and 36 weeks of gestation and were assayed for prothrombin time, antithrombin III (ATIII) activity, protein C activity, protein S (PS) activity, prothrombin fragments 1+2, type 1 plasminogen activator inhibitor activity, tissue plasminogen activator antigen, plasminogen, activated protein C resistance, factors VII and VIII levels and D dimer. Student t-test, one way analysis of variance (ANOVA) and Fisher test were used for statistical analysis. RESULTS: Factor VII and factor VIII were always increased with respect to controls. Variance analysis showed a statistically significant reduction for anticoagulants (PS) and a rise for F1+2 and D dimer. With regard to fibrinolysis, there was an increase both for t-PA and PA1-1 during pregnancy. Moreover, the increased activity of factors of haemostasis was accompanied by an increase of activity and concentration of ATIII and acquired activated protein C resistance. CONCLUSIONS: These findings suggest that normal pregnancy is associated with an hypercoagulable state, resulting into a moderate risk for thrombosis during the different trimesters of pregnancy. Also broad spectrum assays which measure a range of trombin/fibrin formation in serum have become an established mean to identify activation of blood coagulation and/or fibrinolysis. There is a considerable interest in the application of these assays to the diagnosis of other acquired hypercoagulable states; such as thrombophilia during pregnancy. From the viewpoint of coagulation/fibrinolysis changes, the follow-up of thrombophilia markers could be recommended when levels of coagulation parameters exceed the normal values during pregnancy.

Reverdin-Isham osteotomy versus Endolog system for correction of moderate hallux valgus deformity: a Randomized Controlled Trial.

OBJECTIVES: Several procedures have been described for the management of hallux valgus deformity. In this paper we would like to compare our experiences with two techniques (Endolog system and Reverdin-Isham osteotomy) with a randomized study. To our knowledge, this is the first study to be reported in the literature, that provides a detailed comparison of these two techniques to treat moderate hallux valgus. MATERIALS AND METHODS: A total of 40 consecutive patients (40 feet) with moderate symptomatic hallux valgus were randomly assigned into two groups, to compare the results of Reverdin-Isham osteotomy (group A,20 feet) and Endolog system (group B, 20 feet). RESULTS: The average follow-up was of 23.7 ±7.7months . The average correction of HVA and IMA achieved in group A was 17.1° ±6.2° and 5.2° ±2.6° respectively, while in group B, it was 14°±6.2° and 7.7°±2.6° respectively. The mean AOFAS score improved from a pre-operative of 40.5 ±15.5 points to 90.3 ±5.3 points in group A, and from 32.4 ±16.8 points to 89.2 ±10.5 in group B. CONCLUSIONS: No statistically significant differences were detected between the two groups with respect to the AOFAS score, HVA, and IMA. Both groups showed good to excellent results.

An intensive communication intervention for the critically ill.

PURPOSE: We sought to determine the effects of a communication process that was designed to encourage the use of advanced supportive technology when it is of benefit, but to limit its burdens when it is ineffective. We compared usual care with a proactive, multidisciplinary method of communicating that prospectively identified for patients and families the criteria that would determine whether a care plan was effective at meeting the goals of the patient. This process allowed caregivers to be informed of patient preferences about continued advanced supportive technology when its continuation would result in a compromised functional outcome or death. MATERIALS AND METHODS: We performed a before-and-after study in 530 adult medical patients who were consecutively admitted to a university tertiary care hospital for intensive care. Multidisciplinary meetings were held within 72 hours of critical care admission. Patients, families, and the critical care team discussed the care plan and the patients' goals and expectations for the outcome of critical care. Clinical "milestones" indicative of recovery were identified with time frames for their occurrence. Follow-up meetings were held to discuss palliative care options when continued advanced supportive technology was not achieving the patient's goals. We measured length of stay, mortality, and provider team and family consensus in 134 patients before the intensive communication intervention and in 396 patients after the intervention. RESULTS: Intensive communication significantly reduced the median length of stay from 4 days (interquartile range, 2 to 11 days) to 3 days (2 to 6 days, P = 0.01 by survival analysis). This reduction remained significant after adjustment for acute physiology and chronic health evaluation (APACHE) 3 score [risk ratio (RR) = 0.81; 95% confidence interval (CI), 0.66 to 0.99; P = 0.04). Subgroup analysis revealed that this reduction occurred in our target group, patients with acuity scores in the highest quartile who died (RR = 0.60; 95% CI, 0.38 to 0.92; P = 0.02). The intervention, which allowed dying patients earlier access to palliative care, was not associated with increased mortality. CONCLUSIONS: Intensive communication was associated with a reduction in critical care use by patients who died. Our multidisciplinary process targeted advanced supportive technology to patients who survived and allowed the earlier withdrawal of advanced supportive technology when it was ineffective.

Multimodal therapy with combined plasmapheresis, photoapheresis, and intravenous immunoglobulin for acute antibody-mediated renal transplant rejection: a 2-year follow-up.

BACKGROUND: Recently, the role of antibodies has been documented in the development of acute rejection episodes. Antibody-mediated acute rejection (AMAR) may develop at any time after transplantation, with an incidence of almost 7%. Several therapeutic approaches have been proposed in the past decades. However, no data exist regarding combined plasma treatment (PT) and extracorporeal photopheresis (ECP). The aim of this study was to report an initial single-center experience of combined PT and ECP with high-dose intravenous immunoglobulin (IVIg) for the treatment of AMAR. METHODS: Three patients were treated with this approach. RESULTS: In 2 cases, we observed immediate restoration of graft function, and in 1 case, in which we interrupted the protocol owing to lack of patient consent, the graft was lost. No organ infections were reported during the therapy period. The rationale for use of ECP is related to the presence of mixed antibody and cell-mediated mechanisms in acute rejection episodes. ECP inhibits specific pathogenic T cells. CONCLUSION: Our approach seemed to give good results in terms of graft survival and safety.

[Quality of life and psychologic features of subjects with chronic respiratory diseases]. / Qualità della vita ed aspetti psicologici nei soggetti affetti da malattie respiratorie croniche.

The aim of this study is to verify the psychological attitude and the quality of life in patients suffering from chronic respiratory insufficiency. Taking for granted that a bad quality of life is connected with the symptom of a depressed state (loss of appetite, quality of sleep, sexuality, psychomotor slowing down, loss of energy, weariness, reduced interest for the external world, feelings of self-devaluation, reduced working and concentration capacity, complainings of turning over type) we have taken as index of "normal quality of life" the lack of these attitudes correlating them to the clinical symptoms and/or the patient's functional troubles and verifying how much they can affect the psychological features and how much the deterioration of the quality of life. For this reason a questionnaire, taken from the MMPI test (Minnesota Multiphasic Personality Inventory), restricted to the items related to the D scale (depression scale), has been given to one hundred COPD patients who had been examined previously from a clinical functional point of view. In the end, we have drawn our results both on the ground of the answers given by the patients to the single questions and on the grounds of the total score D (= depression index) and relating the previous data with the clinical-functional ones. Finally we have compareted these data with those ones connected with non selected population. So we have succeeded in outlining a psychophysical profile of the patient suffering from chronic respiratory diseases. Such a profile is marked by an objective element, that is pathology, and by a psychological element inserted into the organic one as there is an inter-dependence between pathology and psychological features. From the collected data, we have noted the behavioural spheres which are more upset are working capacities, sleep and mood and these features are directly proportional to the seriousness of the pathology. From a practical and therapeutic point of view, all this can be of great importance.