Background and purpose
Charcot‐Marie‐Tooth disease (CMT) type 1A is characterized by uniformly reduced nerve conduction velocity (NCV) that is fully penetrant since the first years of life, remains ...fairly stable through the life and does not correlate with disability whereas compound muscular action potential (CMAP) amplitude does. The aim of the present study was to analyze the large amount of electrophysiological data collected in the ascorbic acid trial in Italy and the UK (CMT‐TRIAAL/CMT‐TRAUK) and to use these data to gain insights into the pathophysiology of NCV in CMT1A.
Methods
Baseline electrophysiological data from 271 patients were analysed. Electrophysiological recordings were taken from the motor ulnar, median and peroneal nerves and the sensory ulnar nerve. Distal motor latency (DML), motor (MNCV) and sensory (SNCV) nerve conduction velocity, and amplitudes of CMAPs and sensory action potentials were assessed. Electrophysiological findings were correlated with age of patients at examination and the Charcot–Marie−Tooth Examination Score (CMTES).
Results
NCV was markedly and uniformly reduced. CMAP amplitudes were overall reduced but more severely in lower limbs. DML decreased and MNCV and SNCV increased with age of the patients, whereas CMAP amplitudes worsened with age and also correlated with CMTES.
Conclusions
This is the largest sample of electrophysiological data obtained so far from CMT1A patients. Axonal degeneration as assessed by means of CMAP amplitude reflected clinical impairment and was consistent with a slowly progressive length‐dependent neuropathy. All patients typically had markedly slowed NCV that did, however, slightly increase with age of the patients. The improvement of NCV might depend on myelin thickness remodelling that occurs during the adult life of CMT1A patients.
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK
Abstract INTRODUCTION Small bowel injuries after blunt abdominal trauma represent both a diagnostic and a therapeutic challenge. Early diagnosis and prompt treatment are necessary in order to avoid a ...dangerous diagnostic delay. Laparoscopy can represent a diagnostic and therapeutic tool in patients with uncertain clinical symptoms. PRESENTATION OF THE CASE We report the case of a 25-year-old man, haemodynamically stable, admitted for acute abdominal pain a few hours after a physical assault. Giving the persistence of the abdominal pain and the presence of free fluids at the computed tomography examination, an exploratory laparoscopy was performed. DISCUSSION At the laparoscopic exploration, an isolated small bowel perforation was found, 60 cm distal from the ligament of Treitz. The injury was repaired by laparoscopic suturing and the patient was discharged home at postoperative day 3 after an uneventful postoperative course. CONCLUSIONS Laparoscopy represents a valuable tool for patients with small bowel blunt injuries allowing a timely diagnosis and a prompt treatment.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Objective: To identify optimal areas for the insertion of extra-alveolar miniscrews into the infrazygomatic crest (IZC) and mandibular buccal shelf (MBS), using cone beam computed tomography (CBCT) ...imaging in patients with different craniofacial patterns. Methods: CBCT reconstructions of untreated individuals were used to evaluate the IZC and MBS areas. The participants were divided into three groups, based on the craniofacial pattern, namely, brachyfacial (n = 15; mean age, 23.3 years), mesofacial (n = 15; mean age, 19.24 years), and dolichofacial (n = 15; mean age, 17.79 years). In the IZC, the evaluated areas were at 11, 13, and 15 mm above the buccal cusp tips of the right and left first molars. In the MBS, the evaluated areas were at the projections of the first molars' distal roots and second molars' mesial and distal roots, at a 4- and 8-mm distance from the cementoenamel junction. Intergroup comparisons were performed with analysis of variance and the Tukey test. Results: There was no statistically significant difference in the IZC bone thickness among the groups. For MBS bone availability, some comparisons revealed no difference; meanwhile, other comparisons revealed increased MBS bone thickness in the brachyfacial (first molars distal roots) and dolichofacial (second molars mesial and distal roots) patterns. Conclusions: There was no significant difference in the IZC bone thickness among the groups. The facial skeletal pattern may affect the availability of ideal bone thickness for the insertion of extra-alveolar miniscrews in the MBS region; however, this variability is unlikely to be clinically meaningful.
Antiplatelet therapy plays a pivotal role in the treatment of patients with acute coronary syndromes (ACS), inducing a significant reduction of ischemic events. Aspirin treatment is associated with a ...substantial 50% reduction of death or myocardial infarction in patients with ACS, but it is usually combined with other antiplatelet agents in order to achieve a more profound inhibition of platelet aggregation. Ticlopidine was initially used in association with aspirin in patients treated with percutaneous coronary interventions (PCI), demonstrating a dramatic reduction of the risk of stent thrombosis. Later on it has been replaced by clopidogrel, which now represents in combination with aspirin the standard treatment of patients with ACS treated either medically or invasively, with a 20% risk reduction in comparison with aspirin alone. The limitation of clopidogrel resistance, documented in about 30% of patients because of genetic factors, clinical factors, and pharmacokinetic factors (i.e., poor absorption and drug-drug interactions), has promoted the development of third generation thienopiridines. Prasugrel, which is a more potent and faster inhibitor of platelet aggregation, in comparison with clopidogrel is associated with a further 20% reduction of ischemic events with an increase of major bleedings in patients with ACS undergoing PCI. It is therefore recommended for patients with ACS at high ischemic risk and at non-high hemorrhagic risk. Ticagrelor, a reversible antagonist of P2Y12 platelet receptor, in comparison with clopidogrel is associated with a 16% reduction of ischemic events, including a significant reduction of death from vascular causes, without increasing the rate of overall major bleeding. Intravenous cangrelor, which has been compared with clopidogrel in patients with ACS undergoing PCI, yielded negative results. The use of glycoproteins IIb/IIIa inhibitors (abciximab, eptifibatide, tirofiban) is no longer recommended as upstream therapy in patients with ACS undergoing PCI, but only in the periprocedural phase. New selective antagonists of thrombin receptor 1 (PAR-1), on top of the standard dual antiplatelet therapy, are now under investigation in patients with ACS and in the secondary prevention. In conclusion, an accurate evaluation is warranted of the balance between ischemic and hemorrhagic risk when deciding the choice of antiplatelet treatment in the individual patient. The hope for the future is the development of new selective platelet inhibitors with higher antischemic efficacy and better hemorrhagic profile.
Acute coronary syndromes (ACS) are one of the most dramatic manifestations of atherothrombosis and several efforts have been made in recent years to improve their prognosis. Morbidity and mortality ...of high-to-medium risk ACS have significantly reduced in the real world setting during the last few years, due to a very aggressive antithrombotic therapy, which always involves a combination of an anticoagulant and different antiplatelet agents, and an extensive indication to revascularization. However, it has become increasingly important for clinicians to identify the correct treatment between the several different combination of antithrombotic and antiplatelet agents. The selection and intensity of these combinations are based in the first instance on the ischemic risk profile of the patient and the treatment strategy (early invasive, delayed invasive or conservative) selected. However, the use of such an aggressive antithrombotic therapy coupled with coronary angioplasty exposes the patients to a significant risk of bleeding. Unfortunately, these bleeding complications have a negative prognostic significance and force clinicians to suspend (or decrease) the antithrombotic treatments to control bleeding.
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