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AIM: To evaluate the relationship between diagnosis and clinical course of Tourette syndrome and group A Streptococcus (GAS). METHOD: GAS infections, anti-streptococcal, and anti-basal ganglia antibodies (ABGA) were compared between 168 patients (136 males, 32 females) with Tourette syndrome; (median [range] age [25th-75th centile] 10y [8-11y]); median Tourette syndrome duration (25th-75th centile), 3y (1y 3mo-5y 9mo) and a comparison group of 177 patients (117 males, 60 females) with epileptic or sleep disorders median age [25th-75th centile], 10y [8y-1y 6mo]). One hundred and forty-four patients with Tourette syndrome were followed up at 3-month intervals; exacerbations of tics, obsessive-compulsive symptoms, and other psychiatric comorbidities were defined by a bootstrap procedure. The effect of new GAS infections and identification of new ABGA upon risk of exacerbation was assessed using logistic regression analysis. RESULTS: Cross-sectionally, patients with Tourette syndrome exhibited a higher frequency of GAS infection (8% vs 2%; p=0.009), higher anti-streptolysin O (ASO) titres (246 [108-432] vs 125 [53-269]; p0.05). INTERPRETATION: Patients with Tourette syndrome might be more prone to GAS infections and develop stronger antibody responses to GAS, probably as a result of underlying immune dysregulation. New GAS infections are unlikely to exert, years after their onset, a major effect upon the severity of neuropsychiatric symptoms.

Anche questa seconda edizione italiana del testo Anatomia umana con riferimenti clinici, come la precedente, descrive l'anatomia umana dando agli argomenti un significativo rilievo clinico, con un felice connubio fra anatomia descrittiva e aspetti funzionali e pratici, in linea con l’esigenza sempre più sentita di fornire agli studenti la basi per interpretare e trasferire in un contesto applicativo le conoscenze anatomiche. L’opera è ricca di caratteristiche espressamente studiate per facilitare lo studio e l'apprendimento. La prima di queste caratteristiche è sicuramente costituita dall'imponente apparato iconografico con più di 800 illustrazioni a colori e numerose tavole che combinano sezioni anatomiche, disegni e immagini diagnostiche (radiografie, RM, TC). Inoltre, la maggior parte delle condizioni cliniche descritte è accompagnata da fotografie e/o disegni a colori. Il testo è ricco di tabelle che sono di grande aiuto nell’apprendimento delle nozioni più difficili da memorizzare (come, per esempio, le inserzioni e l'azione dei muscoli o la distribuzione dei vasi e dei nervi), in cui sono riassunti e presentati in modo organico gli elementi che consentono di esaminare il quadro completo, e allo stesso tempo sintetico, dei diversi argomenti. Le tabelle sono molto spesso accompagnate da illustrazioni che aiutano lo studente nella comprensione delle strutture descritte, privilegiando l’immediatezza del rapporto fra nozione e immagine. Numerosi sono poi gli inserti che arricchiscono la trattazione principale: - i box che riportano le correlazioni cliniche sono aumentati di numero e sono stati arricchiti con fotografie e/o disegni a colori per facilitare la comprensione del valore pratico dell'anatomia; - i frequenti inserti intitolati Nozioni essenziali, novità di questa edizione, riassumono le informazioni presentate nei paragrafi che li precedono; - le sezioni di Anatomia di superficie presentano dettagliate fotografie a colori a cui sono spesso sovrapposti schemi che evidenziano le strutture anatomiche sottostanti; - ciascun capitolo si chiude con una sezione di Diagnostica per immagini che presenta radiografie, RM, TC ed ecografie corredate da disegni e testi esplicativi. Da non trascurare la presenza di un capitolo di introduzione che riporta le informazioni importanti e i concetti fondamentali per la comprensione dell'anatomia presentata nei successivi capitoli regionali. La terminologia utilizzata nel testo libro fa riferimento alla Terminologia Anatomica, certificata da una decina d’anni dal Federative Committee on Anatomical Terminology (FCAT), in linea con l’impostazione originale degli autori e nella convinzione che occorra uniformare in via definitiva la nomenclatura anatomica. Eponimi, sebbene non approvati dalla IFAA, sono stati eventualmente inseriti tra parentesi per aiutare gli studenti che li ascolteranno durante i loro studi clinici.

We developed a modified transcranial sonography technique to study the morphology of the temporal lobe, a brain region involved in language, memory and social functions in humans that can be visualized in correspondence of the acoustic window of the temporal squama. Previous studies raise the possibility that a unique derived feature of Homo sapiens is a relatively larger temporal lobe compared to those of other hominins and apes. Such a brain reorganization might have contributed to the evolution of various “higher” cognitive functions of Homo sapiens, including language. Hence, the importance of further comparative analyses of the temporal region. With the technique that we developed we were able to study the meninges, the subarachnoidal space and the cortex of the human temporal lobe. The spatial resolution and the ability to visualize structures of 200-300 μm size led us to hypothesize that the linear structures parallel to the subarachnoidal space might be referred to the neuronal layers of the cortex. The low cost, simplicity and safety of the procedure suggest that this technique may have a significant potential in the comparative study of the primate temporal lobe. Furthermore, the procedure described here can also be used for the study of vascularization of the meninges, in order to better understand the evolutionary relationships between the neurocranial shape and the middle meningeal vessels in living and fossil human species., Italian Journal of Anatomy and Embryology, Vol 118, No 3 (2013)

Severe alterations of Cacium-Phospate metabolism are frequently associated with chronic kidney diseases. High levels of Phospate and low levels of vitamin D in subjects affected by chronic kidney disease are, in many cases, correlated with high risk of mortality. For this reason, administration of vitamin D represents the elective treatment. Nevertheless, vitamin D in itself induces a variety of side effects which in many cases can be avoided by the administration of vitamin D analogues. In this study we treated murine cardiomyocytes with different concentrations of vitamin D and paricalcitol (one of its analogues) for 48 hours. Cell morphology, cell proliferation, intracellular Calcium deposition, and cAMP level were investigated respectively by light microscopy, immunoenzymatic assay and Von Kossa staining. Results show that, in comparison to paricalcitol, vitamin D induces stronger side effects on cardiomyocytes (such as cell proliferation, morphological changes, activation of signal transduction pathways). From our data emerges that paricalcitol induces less stressful effects on murine cardiomyocytes in comparison to what observed with vitamin D treatment., Italian Journal of Anatomy and Embryology, Vol 117, No 2 (Supplement) 2012

An excessive physical activity could stress the organism determining unbalanced hormonal orders that can negatively affect the state of optimal health and therefore the sporting output. In particular during physical exercise the free salivary Cortisol concentration increases with the intensity of the exercise followed by an increase of the free Testosterone. On this basis, there is the possibility the determine if the program of preset physical exercise evokes an abnormal reaction of adaptation of the organism. Since physical exercise and athletic performance are strongly related to individual genetic traits, in this study we evaluated the possibility of customize the athletic training on the basis both of genetic and of levels of salivary markers involved in physical stress. Eighteen male gymnasts were genotyped for the following sport involved gene polymorphisms: Angiotensin Converting Enzyme (ACE - I/D), α-actinin 3 (ACTN3 - RR/RX) and Vitamin D Receptor (VDR - BsmI, FokI, TaqI, ApaI). Salivary levels of Cortisol and free Testosterone were measured before and after a standard training session by saliva tests (Grifols, Italy). From our results emerged the possibility of planning the training session avoiding a stress related overtraining and, at the same time, adjusting the athletic training on the basis of individual genetic profile., Italian Journal of Anatomy and Embryology, Vol 117, No 2 (Supplement) 2012

The presence of valves in the head and neck veins is known since classical anatomical dissections. Previous studies have investigated whether jugular veins show constant valves at their ostium and whether these valves are physiologically competent, but, unluckily, these studies have reported conflicting results. Further, recent observations have raised the question whether the incompetence of jugular vein valves might play a pivotal role in neurological disorders related to venous engorgement of the brain. In this study we examined 462 internal jugular veins by using an echocolorodoppler apparatus. In particular, we assessed the presence, morphology and competence of valves at their ostium. Unilateral jugular vein valves were present in 406 cases (88%), mainly on the right side. The most frequently observed morphology (75%, 305 cases) was the two-leaflet valve, and jugular vein valves were incompetent in the huge majority of cases (365 cases, 90%). Our findings confirm the anatomical variability predicted from classical anatomical studies but, unluckily, do not provide additional evidence on the possible role of jugular vein valves in physiology and pathology. Further studies are strongly needed to determine whether these valves actually play an important role in counteracting chest venous pressure and in preventing reflux towards the brain., Italian Journal of Anatomy and Embryology, Vol 115, No 3 (2010)

Acquiring data about venous or arterial vessel size is important for several reasons, given the increasing incidence of thomboembolic phenomena and arterial aneurysms and the emerging new vascular techniques. We studied 250 healthy subjects (125 men and 125 women; age range: 50 to 91 years) with no known vascular pathology, nor hypertension, nor diabetes. We assessed the caliber of abdominal aorta, inferior vena cava, iliac and femoral arteries and viens by color doppler ultrasonography, and analyzed the results with regard to sex, height, weight and body surface of each subject. The mean caliber measure of the large abdominal vessels appeared lower than the value obtained from cadavers. There was a direct proportion between the left and right vessels of the same subject. The difference in vessel caliber between male and female subjects was statistically significant. There was no correlation between vessel caliber and age, height or body surface area., Italian Journal of Anatomy and Embryology, Vol 115, No 3 (2010)

Italian Journal of Anatomy and Embryology, Vol 115, No 1/2 (Supplement) 2010

Italian Journal of Anatomy and Embryology, Vol 115, No 1/2 (Supplement) 2010

Italian Journal of Anatomy and Embryology, Vol 115, No 1/2 (Supplement) 2010

Lipophilic derivatives of the antitumor drug gemcitabine (GEM) with the potential for improving drug loading in lipid-based colloidal carriers, like liposomes or lipid nanoparticles, are described. GEM free base was conjugated to lipoamino acids bearing an alkyl side chain of different length, by either a carbodiimide-assisted or an ethylchloroformiate-assisted coupling reaction, to obtain N4-acyl GEM derivatives. These compounds retained the same in vitro cell growth inhibitory activity of the parent drug against two lines of human anaplastic thyroid cancer cells. Stability studies suggested that the observed activity was due mainly to intact derivatives and not to released GEM. Accordingly, these amphiphilic derivatives can be proposed in a further step for the encapsulation in liposomes or lipid nanocarriers, to achieve as a final goal an improvement of the pharmacokinetics and therapeutic activity of GEM. Drug Dev Res 2010. © 2010 Wiley-Liss, Inc.