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A large body of literature reports the higher prevalence of epilepsy in subjects with Autism Spectrum Disorder (ASD) compared to the general population. Similarly, several studies report an increased rate of Subclinical Electroencephalographic Abnormalities (SEAs) in seizure-free patients with ASD rather than healthy controls, although with varying percentages. SEAs include both several epileptiform discharges and different non-epileptiform electroencephalographic abnormalities. They are more frequently associated with lower intellectual functioning, more serious dysfunctional behaviors, and they are often sign of severer forms of autism. However, SEAs clinical implications remain controversial, and they could represent an epiphenomenon of the neurochemical alterations of autism etiology. This paper provides an overview of the major research findings with two main purposes: to better delineate the state-of-the-art about EEG abnormalities in ASD and to find evidence for or against appropriateness of SEAs pharmacological treatment in ASD.
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Trastorno del Espectro Autista/tratamiento farmacológico , Trastorno del Espectro Autista/fisiopatología , Electroencefalografía , Anticonvulsivantes/uso terapéutico , Trastorno del Espectro Autista/complicaciones , Niño , Trastornos de la Conducta Infantil/etiología , Trastornos de la Conducta Infantil/fisiopatología , Disfunción Cognitiva/etiología , Disfunción Cognitiva/fisiopatología , Epilepsia/etiología , Epilepsia/fisiopatología , Medicina Basada en la Evidencia , Femenino , Humanos , MasculinoRESUMEN
BACKGROUND: Hospitalized patients with acute medical conditions have higher venous thromboembolism (VTE) risk. A patient with a final Padua Prediction Score (PPS) of ≥4 is considered to be at high risk for VTE. The aim of this study was to investigate on a possible relationship between PPS, the dynamics of the clot formation, i.e. the clot waveform analysis (CWA) of aPTT, fibrinogen and D-Dimer in a large group of medical patients. METHODS: CWA in terms of velocity (first derivative), acceleration (second derivative), density (Delta) of aPTT, fibrinogen, D-Dimer and PPS for VTE were determined in 801 medical patients divided in three groups (without antithrombotic prophylaxis and high PPS, without antithrombotic prophylaxis and low PPS, with antithrombotic prophylaxis and high PPS) and a group of healthy subjects. RESULTS: CWA, fibrinogen and D-Dimer values were higher in the medical patients with high PPS with or without antithrombotic prophylaxis when compared with patients without antithrombotic prophylaxis with low PPS and healthy subjects. The second derivative, fibrinogen and D-Dimer were significantly associated with a high PPS score (≥4): odds ratio (OR) = 1.53, 95% confidence interval (CI) = 1.03-2.28; OR = 1.91, 95% CI = 1.3-2.79; OR = 3.16, 95% CI = 2.29-4.36, respectively. Interactions between first derivative and D-Dimer (OR = 2.14, 95% CI = 1.23-3.72) and first derivative and fibrinogen (OR = 1.75, 95% CI = 1.02-2.98) were found. CONCLUSIONS: CWA could give useful information to recognize a hypercoagulable state in patients admitted to a medical ward with high and low PPS. First and second derivative aPTT, D-Dimer and fibrinogen levels could be added to PPS to better assess the global thromboembolic risk of these patients.
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Fibrinógeno/análisis , Tromboembolia Venosa/sangre , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Pruebas de Coagulación Sanguínea , Femenino , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo , Adulto JovenRESUMEN
Systemic sclerosis is a rare disease with a high mortality rate. It is a multisystem connective tissue disease due to endothelial autoimmune activation along with tissue and vascular fibrosis, inducing vasculopathy, with an angiogenesis wasting. The endothelial damage provokes platelet activation and immune cell adhesion. The detachment of endothelial cells leads to the interaction of platelets and collagen present in the exposed subendothelial layer. This provokes the activation of several coagulative factors, inducing a pro-thrombotic condition by thrombin generation, which converts fibrinogen into fibrin. Moreover, thrombin has other functions, such as the induction of hyperplasia in smooth muscle cells and fibroblasts, thereby favouring fibrosis. An increased risk of venous thromboembolism has been found in systemic sclerosis, whereas pulmonary hypertension may be due to the obstruction of small pulmonary arteries. Pulmonary veno-occlusive disease may also occur. Warfarin showed inconsistent results, while the outcomes of a randomised, placebo-controlled clinical trial on apixaban versus placebo are still awaited. A new anticoagulation strategy based on anti-factor XI drugs is being developed, with the aim of achieving optimal anticoagulation along with a low risk of bleeding. The molecule types under investigation in this category include monoclonal antibodies, small molecules, natural inhibitors, antisense oligonucleotides, and aptamers. Patients with systemic sclerosis may be ideal candidates for clinical trials planned to analyse the efficacy and safety of these molecules.
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CONTEXT.: Prothrombin time (PT) and activated partial thromboplastin time (aPTT) are coagulative screening tests used for the diagnosis of several pathologic conditions, such as liver failure, coagulation factor deficiencies, anti-phospholipid antibodies (lupus anticoagulant), and factor VIII inhibitors. A new test was developed several years ago to detect the amount of thrombin generated during plasma clotting, using low tissue factor concentrations and fluorogenic substrates, and it has since been used successfully in conditions ranging from hypocoagulable to hypercoagulable states. However, the test is expensive and difficult to perform in nonspecialized laboratories, and efforts have thus been made to find an economic and easily implementable test suitable for routine use, even in nonspecialist laboratories. OBJECTIVE.: To evaluate clot waveform analysis (CWA) of PT and aPTT, aiming to show the dynamics of clot formation; that is, the "hidden" features of both tests. CWA can be implemented by using an automated coagulometer with dedicated software. The aim of this review was to evaluate whether CWA is able to detect both hypercoagulative and hypocoagulative states. DATA SOURCES.: Using MedLine, we searched and retrieved articles relating to CWA. We only considered articles published in English, but with no limits in terms of article type, publication year, or geography. CONCLUSIONS.: CWA was shown to be a reliable test in patients with both hypercoagulable and hypocoagulable states. It represents a simple and inexpensive global test that can easily provide information on the behavior of the coagulation system. Both the first and second derivatives are computed by using dedicated software implemented with an on-board algorithm in a routine automated coagulometer.
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INTRODUCTION: Thrombophilia testing (TT) is a laboratory procedure designed to detect the risk factors involved in the pathogenesis of vascular occlusions. The role of TT is also controversial because it has a limited impact on the choice and duration of antithrombotic treatments. AREAS COVERED: We reviewed, by examining MEDLINE up to October 2023. Accepted and not accepted thrombophilia markers are discussed along with the appropriateness or not of prescribing TT in several conditions such as: provoked and unprovoked venous thromboembolism (VTE), women who are planning a pregnancy whose relatives had VTE or have a hereditary thrombophilia, before assumption of estro-progestins, after multiple pregnant loss, arterial thrombosis, retinal vein occlusion, and splanchnic vein thrombosis. EXPERT OPINION: TT is not essential in the management of VTE, but it may be useful for limiting adverse events in case of thrombophilia. We expose our criticism of items afforded by other guidelines by presenting our opinion based on both the scientific evidence and clinical practice. We also deal with common mistakes in prescribing and interpretations of TT hoping to purpose an educational approach on this topic. Finally, we emphasize the creation of the expert in hemostasis and thrombosis who should be present in every hospital.
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Trombofilia , Tromboembolia Venosa , Trombosis de la Vena , Embarazo , Humanos , Femenino , Tromboembolia Venosa/diagnóstico , Tromboembolia Venosa/etiología , Trombofilia/diagnóstico , Trombofilia/etiología , Factores de RiesgoRESUMEN
The prothrombin time (PT) and the activated partial thromboplastin time (aPTT) are two basic tests for routine purposes, which are widely used in the clinical screening of coagulopathies. PT and aPTT are useful tests for detecting both symptomatic (hemorrhagic) and asymptomatic defects, but they are unsuitable for studying hypercoagulable states. However, these tests are available for studying the dynamic process of clot formation by means of the detection of the clot waveform analysis (CWA), which has been introduced several years ago. CWA can provide useful information on both hypocoagulable and hypercoagulable states. Nowadays it is possible to detect the whole clot formation both in the PT and aPTT tubes starting from the initial step of fibrin polymerization by means of specific and dedicated algorithm implemented in a coagulometer. In particular, CWA provides information on the velocity (first derivative), acceleration (second derivative), and density (delta) of clot formation. CWA has been applied to several pathologic conditions such as coagulation factor deficiency (including congenital hemophilia from factor VIII, IX, or XI deficiency), acquired hemophilia, disseminated intravascular coagulation (DIC), sepsis, replacement therapy management, chronic spontaneous urticarial, and liver cirrhosis, in patients with high venous thromboembolic risk before LMWH prophylaxis, and in patients with different hemorrhagic patterns along with an electron microscopy evaluation of the clot density. We report here materials and methods used for detecting the additional clotting parameters available in both PT and aPTT.
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Hemofilia A , Trombofilia , Trombosis , Humanos , Heparina de Bajo-Peso-Molecular , Pruebas de Coagulación Sanguínea/métodos , Tiempo de Protrombina , Tiempo de Tromboplastina Parcial , Trombosis/diagnósticoRESUMEN
Systemic sclerosis is a multisystem connective tissue disease, characterized by endothelial autoimmune activation, along with tissue and vascular fibrosis leading to vasculopathy and to a progressive loss of angiogenesis. This condition further deranges the endothelial barrier favouring the opening of the endothelial junctions allowing the vascular leak in the surrounding tissues: this process may induce cell detachment which allows the contact between platelets and collagen present in the exposed subendothelial layer. Platelets first adhere to collagen via glycoprotein VI and then, immediately aggregate because of the release of von Willebrand factor which is a strong activator of platelet aggregation. Activated platelets exert their procoagulant activity, exposing on their membrane phospholipids and phosphatidylserine, enabling the adsorption of clotting factors ready to form thrombin which in turn drives the amplification of the coagulative cascade. An essential role in the activation of blood coagulation is the tissue factor (TF), which triggers blood coagulation. The TF is found abundantly in the subendothelial collagen and is also expressed by fibroblasts providing a haemostatic covering layer ready to activate coagulation when the endothelial injury occurs. The aim of this review is to focus the attention on the underlying mechanisms related to haemostasis and thrombosis pathophysiology which may have a relevant role in SSc as well as on a possible role of anticoagulation in this disease.
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Esclerodermia Sistémica , Trombosis , Humanos , Hemostasis/fisiología , Coagulación Sanguínea , Trombosis/metabolismo , Tromboplastina , ColágenoRESUMEN
Chronic spontaneous urticaria (CSU) is a disorder characterized by wheals and/or angioedema. The coagulation cascade and inflammation pathways are closely linked together. The aim of our study was first to investigate the dynamics of clot formation in plasma (Clot Waveform Analysis, CWA) in a group of 47 patients with CSU along with other coagulative parameters dedicated to the study of hypercoagulability, such as D-Dimer, F 1 + 2 peptide, Fibrinogen, Platelet count and Mean Platelet Volume (MPV). Secondly, 23 out of 47 patients were treated with Omalizumab at four administration intervals from T0 to T4. A statistically significant increase in Activated Partial Thromboplastin (aPTT) ratio, D-Dimer, F1 + 2, Platelet count and MPV was found when compared with 53 healthy controls (HC). In contrast, the 2nd Derivative of aPTT showed lower values than those of the HC. No differences were found between 1st derivative of aPTT and Fibrinogen. D-Dimer only showed a significant difference between T0 and T3. An activation of both coagulation and fibrinolysis along with a weaker clot acceleration may be in agreement with a low-grade DIC. The accelerated turnover of platelets expressed by both an increase in platelet count and MPV further supports this pathway in CSU. Omalizumab does not affect the relationship between the immune and the hemostatic systems.
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Urticaria Crónica , Coagulación Intravascular Diseminada , Urticaria , Humanos , Omalizumab/uso terapéutico , Urticaria/tratamiento farmacológico , FibrinógenoRESUMEN
A liquid chromatography tandem mass spectrometry method for ethyl glucuronide (EtG) detection and quantification in nails was developed and fully validated. Nails were extracted in 700 µL double-distilled water. EtG-d(5) was used as an internal standard. Reversed-phase separation was obtained with an isocratic mobile phase composed of 0.1% formic acid and acetonitrile (99:1) for 10 min. Quantification was performed by multiple reaction monitoring of two transitions per compound (EtG and internal standard). The assay was linear from 10 to 500 pg/mg. Validation parameters were studied at three different quality control levels (10, 50, and 300 pg/mg). Intraday, interday, and total imprecision had a coefficient of variation of less than 9.5%. Ion suppression and ion enhancement were negligible (less than 20%). No carryover was detected. The method was applied to several real cases, among teetotalers, social drinkers, and heavy drinkers. A questionnaire, together with the informed consent form, was given to all the participants in order to evaluate alcohol intake in the one month before sample collection. Nail EtG levels in a social drinker were much higher than the concentrations of EtG in hair provided by the same subject, thus suggesting potential high sensitivity in evaluating both chronic excessive alcohol consumption and binge drinking habits.
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Consumo de Bebidas Alcohólicas , Cromatografía Liquida/métodos , Glucuronatos/análisis , Uñas/química , Detección de Abuso de Sustancias/métodos , Espectrometría de Masas en Tándem/métodos , Adolescente , Adulto , Biomarcadores/análisis , Femenino , Cabello/química , Humanos , Masculino , Persona de Mediana Edad , Sensibilidad y Especificidad , Adulto JovenRESUMEN
Migraine without aura (MoA) could be considered the most frequent form of primary headache in children, associated with many known comorbidities, but only the recent literature has begun to consider the importance of motor impairment linked to the attacks. The developmental coordination disorder (DCD) is a very common problem among children, with a prevalence ranging up to 19 %. The aim of this study was to evaluate the presence of motor coordination impairment in a population of children affected by MoA, and its role as putative risk factor for motor skills impairment. This observational study was performed in the Clinic of Child and Adolescent Neuropsychiatry of the Second University of Naples. MoA was diagnosed according to the International Classification of Headache Disorders (IHS-2) criteria. The study population consisted of 27 patients affected by MoA (16 females, 11 males) (mean age: 8.7 ± 2.15 years) and 59 typically developing children (34 females, 25 males) (mean age: 8.0 ± 2.1 years). The whole population underwent a clinical evaluation in order to assess the total IQ level, the visual motor integration skills, and the presence of DCD. Our results showed that MoA children had more impairments in motor coordination (p < 0.001) and visual motor integration (p < 0.001) than control group. To our knowledge, this is the first study to assess the association of poor motor coordination and MoA in children using objective measurements. These findings suggest a new perspective in the management of migraine disease in children, pinpointing that the relationship between DCD and migraine could represent a not yet understood or identified comorbidity, even if further reports are necessary, and that migraine probably could be considered not only a painful syndrome in future.
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Migraña sin Aura/complicaciones , Trastornos de la Destreza Motora/etiología , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Humanos , Modelos Logísticos , Masculino , Análisis Multivariante , Pruebas Neuropsicológicas , Desempeño Psicomotor , Factores de Riesgo , Escalas de WechslerRESUMEN
Migraine is common in children, but few specific drugs are available. We performed an open-label comparison of effects of two nutraceutical preparations (ginkgolide B vs. Griffonia simplicifolia extract) on outcomes in 374 school-age children (mean 10.7 years) with migraine without aura. Half of them received ginkgolide B; and half, Griffonia simplicifolia. Both preparations were given orally twice a day for 6 months. Patients kept a headache diary. Outcomes at the beginning and end of treatment were compared. Both preparations reduced all outcome measures after 6 months of treatment. However, reductions in headache frequency, duration and intensity, PedMIDAS score and behavioural reactions to headache were significantly greater in the ginkgolide B group. Both nutraceutical treatments appear promising in paediatric migraine without aura, particularly because of their lack of side effects. However, the ginkgolide B preparation was significantly more effective in the medium-term (6 months).
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Conducta Infantil/psicología , Suplementos Dietéticos , Ginkgólidos/administración & dosificación , Lactonas/administración & dosificación , Trastornos Migrañosos/prevención & control , Trastornos Migrañosos/psicología , Lectinas de Plantas/administración & dosificación , Niño , Evaluación de la Discapacidad , Femenino , Griffonia , Humanos , Masculino , Trastornos Migrañosos/epidemiología , Proyectos Piloto , Resultado del TratamientoRESUMEN
BACKGROUND: A growing number of reports pinpoint the high prevalence of mood disorders in OSAS patients. The aim of the study was to verify the presence of depressive mood disorders and their relationship with OSAS in a population of public transport drivers. METHODS: 164 city bus drivers underwent an anthropometric and biochemical assessment, administration of ESS and Zung Scale questionnaires and cardio-respiratory polysomnography (PSG). The data were compared with a matched control group of 171 subjects. RESULTS: The two groups of subjects differed as regards BMI (p < 0.001), neck circumference (p < 0.001), fasting plasma glucose (p < 0.001), basal insulin (p < 0.001) and HOMA index (p < 0.001), degree of daytime sleepiness (p < 0.001) and Zung scale score (p < 0.001). PSG revealed significant differences in AHI (p < 0001), ODI (p < 0001), in the absolute and mean values of the nadir of the ODI (for both p < 0001), in total sleep time with O2 saturation level values < 90% (p < 0.001) and < 80% (p < 0.001). Pearson's correlation analysis showed a linear relationship between AHI and Zung scale (r = 0.75, p = 0.000) and between ODI and ESS (r = 0.59, p = 0.000). CONCLUSIONS: The role of sleep-related breathing disorders in mood modulation is well known from the literature. Our results highlight the relationship between OSAS and mood lowering in urban bus drivers, suggesting the need for a multidisciplinary approach to assess the health of this occupational group, including assessment of any sleep disorders, with particular reference to those of a respiratory nature.
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Trastornos del Humor/diagnóstico , Trastornos del Humor/epidemiología , Apnea Obstructiva del Sueño/diagnóstico , Apnea Obstructiva del Sueño/epidemiología , Transportes , Algoritmos , Estudios de Casos y Controles , Ciudades , Trastorno Depresivo/diagnóstico , Trastorno Depresivo/epidemiología , Femenino , Humanos , Italia/epidemiología , Masculino , Persona de Mediana Edad , Trastornos del Humor/etiología , Vehículos a Motor , Polisomnografía , Prevalencia , Medición de Riesgo , Factores de Riesgo , Apnea Obstructiva del Sueño/complicaciones , Encuestas y Cuestionarios , Recursos HumanosRESUMEN
BACKGROUND: Clot characterization is, to the present days, a multimodal approach: scanning the clot by electron microscopy (SEM) is helpful for the visualization of fibrin structure along with laboratory parameters such as the clot waveform analysis (CWA) and thrombin generation in different settings of clot abnormalities. This study aimed to assess whether the coagulative parameters were consistent with the clot images texture acquired by SEM, and therefore to propose a more generalist and integrative approach to clots classification. DESIGN AND METHODS: In this pilot study, the examined population consists of eight healthy subjects, seven patients affected by Acquired Hemophilia A (AHA) and seven patients treated with Vitamin K Antagonists (VKAs), similar for age and gender. We studied the velocity and acceleration (1st and 2nd derivative of the aPTT) of clot formation (CWA), the thrombin generation, and the clots' scanning by SEM. Images acquired with SEM were then analyzed with the MATLAB software with the "Texture Analysis" methods to perform classification. Among the various texture parameters, we reported Contrast and Energy. RESULTS: Significant differences among healthy subjects, patients with AHA and those treated with VKAs were detected for the coagulative parameters. We found no differences between VKAs and AHA patients. Contrast and energy highlighted a significant difference among the three groups in agreement with the laboratory's parameters. We found no significant differences between VKAs and AHA patients. CONCLUSIONS: The use of SEM, CWA and thrombin generation parameters may be a starting point for studies aimed to demonstrate the general characteristics of clot formation in different clinical conditions with a multiparametric approach.
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BACKGROUND: Aerobic exercise can greatly assist in reducing collateral effects of metabolic syndrome (MetS). Moreover, aerobic exercise is associated with sympathetic activation and adaptive responses to sustain muscle engagement, changes in the release of Orexin A, a pleiotropic neuropeptide. AIM: The aim of this study was to analyze the beneficial effects of aerobic exercise without dietary changes, in a cohort of MetS subjects, focusing on the role of sympathetic and orexinergic activity. Several blood parameters linked to MetS ROS production, heart rate, galvanic skin response, d-ROM test, and Orexin A serum levels were evaluated in ten males with MetS (BMI 30-34.9) before and after a period of 6 months of aerobic exercise compared to ten healthy subjects. METHODS: Ten male subjects (aged 54 ± 4.16) with MetS (MetS group) and ten healthy males (aged 49.7 ± 2.79, Healthy group) were told about the study protocol and possible risks, signed the informed consent, and voluntarily participated in the study. Several blood parameters were evaluated in the two tested groups and were re-evaluated in the MetS group after 6 months of training (MetS6M group). The training protocol consisted of more than 30 min/day of walking (average speed of 4.5 km/h) and 3 days/week of aerobic activities (jogging under heart rate control - 120-140 bpm for 45 min). RESULTS: The results showed that exercise induced a significant increase in GSR and plasma Orexin A but no significant increase in d-ROM values. Significant decreases in the serum ALT enzyme, triglycerides, and total cholesterol were found, while the HDL levels were significantly higher. Finally, a significant reduction of BMI and resting HR were reported. CONCLUSION: The results of this study confirm that physical activity is associated with sympathetic activation, having a pivotal role against adverse effects linked to MetS. Moreover, this study demonstrates that, in patients with MetS, Orexin A is involved in hormonal adaptations to exercise.
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Functional non-retentive fecal incontinence (FNRFI) is a common problem in pediatric age. FNRFI is defined as unintended loss of stool in a 4-year-old or older child after organic causes have been excluded. FNRFI tends to affects up to 3% of children older than 4 years, with males being affected more frequently than females. Clinically, children affected by FNRFI have normal intestinal movements and stool consistency. Literature data show that children with fecal incontinence have increased levels of separation anxiety, specific phobias, general anxiety, attention-deficit/hyperactivity disorder (ADHD), and oppositional defiant disorder. In terms of possible relationship between incontinence and sleep, disorders of sleep organization have been observed in the pathogenesis of enuresis so generating the hypothesis that the orexinergic system may have a crucial role not only for the sleep organization per se but also for the sphincterial control in general. This study aimed to focus on specific neurophysiological aspects to investigate on the possible relationship between sleep organizational abnormalities and FNRFI. Specifically, we aimed to measure orexin serum levels in children with FNRFI and assess their polysomnographic sleep macrostructure patterns. Two study groups were considered: FNFRI (n = 45) and typically developed (TD) (n = 45) group. In both groups, sleep patterns and respiratory events were assessed by polysomnographic recordings (PSG) during a period of two nights at least, and plasma levels of Orexin-A were measured in each participant. The findings of this initial investigation seem to support a major role of Orexin-A in sleep organization alterations in children with FNFRI. Also, our data suggest that sleep habits evaluation should be considered as screening and complementary tool for the diagnosis of fecal incontinence in children.
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INTRODUCTION: Prothrombin time is thought to be unreliable in cirrhotic patients to predict the risk of bleeding. We investigated whether prothrombin time ratio was an independent risk factor for bleeding alongside its clot waveform analysis. METHODS: We studied 307 consecutive cirrhotic patients and 115 healthy subjects. A coagulometer was used for detecting both prothrombin time and clot waveform analysis which included velocity (1st derivative) and acceleration (2nd derivative) of clot formation, and area of parabolic segment of the 1st and 2nd derivatives of prothrombin time (entire cycle of the clot formation). RESULTS: Logistic regression shows that prothrombin time ratio was the only variable significantly associated with the history of bleeding. Using a hemorrhagic score, the stepwise model included prothrombin time ratio and the area of parabolic segment of the 1st derivative of Prothrombin Time. Odds ratio was used to create a new score to be challenged against the hemorrhagic score in a ROC analysis. The AUC was 0.72, 95% CI: 0.67-0.77. CONCLUSION: Prothrombin time ratio is associated to an increased bleeding risk. Its role may be further emphasized considering clot waveform analysis. The new score, if aggregated to prothrombin time ratio, could be useful to provide a single parameter immediately ready to assess the bleeding risk in the individual cirrhotic patient.
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Hemorragia/etiología , Cirrosis Hepática/complicaciones , Tiempo de Protrombina , Área Bajo la Curva , Pruebas de Coagulación Sanguínea , Estudios de Casos y Controles , Hemorragia/diagnóstico , Humanos , Modelos Logísticos , Factores de Riesgo , TrombosisRESUMEN
INTRODUCTION: Factor XI (FXI) deficiency is a bleeding disorder which causes a bleeding tendency after trauma or surgery. An inhibitor may be acquired secondary to replacement therapy. AIM: To study on genetical and functional grounds a family admitted to our Haemostasis and Thrombosis Centre for an incidental finding of a prolonged activated partial thromboplastin time (aPTT) in three members. METHODS: aPTT mixing test, dosage of FXI activity and antigen, FXI inhibitor titration, DNA analysis and clot waveform analysis (CWA) were performed. RESULTS: Patients II.1, II.3 and II.4 showed a severe FXI deficiency (0.7, 0.7 and 1.8%, respectively) and low antigen level. Since the proposita was already treated with plasma, the dosage of the inhibitor was determined to be 6.4 Bethesda units. They were homozygous for the p.Glu117Stop mutation. The other family members were heterozygous. The velocity and the maximum acceleration of the clot formation were lower than those of the other family members and the normal subjects but higher than those of patients with acquired haemophilia A. CONCLUSION: A mixing test of a prolonged aPTT should be performed because it will be present both in patients with or without the inhibitor. A molecular analysis in severe FXI deficiency is warranted as it may have prognostic significance. CWA may be helpful for better understanding the pathophysiology of this kind of defect.
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Deficiencia del Factor XI/diagnóstico , Adulto , Anciano , Femenino , Humanos , Italia , Masculino , Persona de Mediana EdadRESUMEN
Fragile X syndrome (FXS) is a genetic syndrome with intellectual disability due to the loss of expression of the FMR1 gene located on chromosome X (Xq27.3). This mutation can suppress the fragile X mental retardation protein (FMRP) with an impact on synaptic functioning and neuronal plasticity. Among associated sign and symptoms of this genetic condition, sleep disturbances have been already described, but few polysomnographic reports in pediatric age have been reported. This multicenter case-control study is aimed at assessing the sleep macrostructure and at analyzing the presence of EEG abnormalities in a cohort of FXS children. We enrolled children with FXS and, as controls, children with typical development. All subjects underwent at least 1 overnight polysomnographic recording (PSG). All recorded data obtained from patients and controls were compared. In children with FXS, all PSG-recorded parameters resulted pathological values compared to those obtained from controls, and in FXS children only, we recorded interictal epileptiform discharges (IEDs), as diffuse or focal spikes and sharp waves, usually singles or in brief runs with intermittent or occasional incidence. A possible link between IEDs and alterations in the circadian sleep-wake cycle may suggest a common dysregulation of the balance between inhibitory and excitatory pathways in these patients. The alteration in sleep pattern in children with FXS may negatively impact the neuropsychological and behavioral functioning, adding increasing burn of the disease on the overall management of these patients. In this regard, treating physicians have to early detect sleep disturbances in their patients for tailored management, in order to prevent adjunctive comorbidities.
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Síndrome del Cromosoma X Frágil/diagnóstico por imagen , Síndrome del Cromosoma X Frágil/fisiopatología , Sueño/fisiología , Adolescente , Estudios de Casos y Controles , Niño , Electroencefalografía/métodos , Femenino , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/metabolismo , Síndrome del Cromosoma X Frágil/metabolismo , Humanos , Masculino , Plasticidad Neuronal/fisiología , Polisomnografía/métodos , Trastornos del Sueño-Vigilia/metabolismo , Trastornos del Sueño-Vigilia/fisiopatologíaRESUMEN
Obesity and lifestyle-related diseases are major problems faced by people in developed nations. Although exercise training prevents the progression of diabetes and obesity, the motivation for exercise is generally low in obese animals and humans. The autonomic nervous system (SNA) plays a crucial role in the regulation of eating behavior. Moreover, the SNA is involved in the body temperature regulation that is strictly related to body weight control, in accordance with the "thermoregulatory hypothesis" of food intake. Some neuronal peptides and hormones, like orexins and adiponectin, are also involved in the regulation of locomotion activity as well as food intake and metabolic rate. Furthermore, adiponectin as well as orexin A are involved in the control of body temperature, food intake and therefore in obesity-related diseases. The aim of this study was to investigate the changes in body temperature (Tc), and heart rate (HR) after an intracerebroventricular (ICV) injection of orexin A and adiponectin in animal model. The results of this study show that the orexin A levels are likely involved in the increase of Tc and HR. It is also clear that there is not a correlation between these parameters and adiponectin levels. Further studies are needed to assess adiponectin actions and outcome in the central nervous system in terms of energy expenditure, body temperature, heart rate and physical activity performance regulation.
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Background: After long-term intensive training, considerable morphological and functional heart changes occur in professional athletes. Such changes arise progressively and regress upon interruption of the physical activity. Morphological and functional alterations on heart are known as "Athlete's heart" condition. Objective: This study aims to compare echocardiographic parameters in two different groups of professional athletes. Furthermore, a prospective study is performed analyzing the echocardiographic changes occurring in 12 professional players in 3 years of follow-up. Materials and Methods: 78 football players were examined from July 2011 to May 2016 (40 enrolled in Group A and 38 in Group B). Twelve players of GROUP A were followed for 3 consecutive seasons. The general clinical examination, the cardiopulmonary evaluation, the ECG, the ergometer stress test, the spirometric examination and the standard cardiac eco color doppler test were recorded. Results: Left ventricle dimensions, left atrium dimensions, and interventricular septum dimensions were higher in A players than in B players. Moreover, following up 12 players for 3 years, a statistically significant increase of such values was observed. Discussion: In A players, higher dimensions of the left chambers and the interventricular septum were observed, compared to B players. No statistically significant difference was found regarding the ejection fraction. The 3 years follow-up showed a statistically significant increase of both left chambers and interventricular septum dimensions, particularly in the second and third year. Conclusions: These findings demonstrated that A players have higher echocardiographic parameters respect to B players. The results of this study support the scientific theory that long-term intensive training influences heart function, inducing "athlete's heart" with morphological adaptations. No significant echocardiographic variation within the examined sample was observed for different roles (goalkeeper, defender, midfielder, or attacker) or skills of individual players.