Alessio Pirino

Histogenesis and morphology of the flexor tendon pulley system in the human embryonic hand.

The number, position, structural and ultrastructural features of the flexor tendon pulley system in six human embryonic hands, aged from 6 to 12 weeks, were studied by light and electron microscope. The pulley system can be recognized from the ninth week; later, at 12 weeks, the structures are easily identified around the flexor tendon in positions closely correlated to those found during post-natal growth and in the adult hand. Structurally and ultrastructurally the pulleys are not simply thickened portions of the sheath. They are formed by three layers: an inner layer, one or two cells thick, probably representing a parietal synovial tendon sheath; a middle layer formed by collagen bundles and fibroblasts whose direction is mainly perpendicular to the underlying phalanx; and an outermost layer consisting of mesenchymal tissue with numerous vessels which extends dorsally in an identical layer, forming a ring that includes flexor and extensor tendons and the cartilaginous model of the phalanx. The pulley does not have a semicircular shape but a much more complicated one, owing to the middle layer which in part runs dorsally and in part ventrally, under the flexor tendons.

Partial trisomy of the long arm of chromosome 1: Prenatal diagnosis, clinical evaluation and cytogenetic findings. Case report and review of the literature

Partial trisomy of the long arm of chromosome 1 is a relatively rare cytogenetic anomaly. Its phenotype has still not been completely defined, because of the cytogenetic heterogeneity of the cases so far described. We report a prenatal case of partial 1q trisomy associated with partial monosomy 4q, secondary to balanced maternal translocation t(1;4). The trisomic segment extended from 1q31.1 to qter and the monosomy 4q was from 4q35.2 to qter. The phenotypic anomalies found by post‐mortem and autopsy examinations were compared with those of similar cases reported in the literature. We performed standard cytogenetics and fluorescence in situ hybridization. Cerebral ventriculomegaly, present in our case, seemed to be a constant feature in partial 1q trisomies, so this cerebral malformation could be considered as the main echographic marker for this chromosomal imbalance and trisomy 1q should be added to the list of chromosomal abnormalities associated with ventriculomegaly.

Morphological study of a mummified heart dated back to 1829: preliminary results

In May 2016, a cylindrical lead container was found in the chapel of the Seminary of Sassari. Based on the archive documents, the cylinder should have contained the heart of Tommaso Arnosio, Archbishop of Torres and Primate of Sardinia and Corsica from 1822 to 1829, who died in 1829 at 54 years, in Turin, his home city. The Archbishop died in the midst of the most atrocious sorrows caused by a large purulent pocket near the heart. After the autopsy and according to his will, the heart was shipped to Sassari, where the heart was buried in the chapel of the Seminary and forgotten for about 186 years. After the discovery, the container was brought for study to our CSAPS laboratory of the Department of Biomedical Sciences. A multidisciplinary team of experts hypothesized as cause of death a suppurative pleuritis or a para-cardiac lung abscess. To verify this hypothesis the cylinder was opened in a laminar flow hood, avoiding any contamination, and a mummified organ immersed in cotton wadding was found. The organ, typically heart shaped, appeared 13 x 9 cm sized, with a thickness of 1.5 cm, a weight of 80.5 g, a dark brown colour and a hard consistency. Few fragments of tissue were collected for analysis; then the organ, closed in the lead container, was returned to the chapel of the seminary. Histological analysis required a rehydration using the Sandison Solution (1); the samples were treated for light microscopy and stained with HE, PAS and Gram’s method. The first results have shown a morphology of cardiac and pericardial tissues partially preserved, and the banding and the intercalated disks appeared just in small portions. The Gram’s method was negative till now. Further histological, immunohistochemical, ultrastructural and, molecular investigations are in progress.

Enamel thickness and trace elements: a new approach to the paleonutritional study

The paleonutrition study of ancient people mainly affects the teeth as the outer and the strongest part of the digestive tract, perfused with blood and lymphatic vessels; bring a lot of information that may be useful to understand the nourishment in the past. The aim of this study is to identify possible correlations between the thickness of the enamel and the presence of trace elements as indicators of Palaeolithic diet. The samples came from seven different Sardinian sites dated back to the 3000 bC and 1400 AD. previously subjected to a classical anthropological study, were washed in absolute acetone and rinsed in distilled water. To calculate the amount of enamel on the teeth and its correlation with the dentin, we chose to analyse the samples with micro-CT oriented perpendicular to the occlusal plane with 360° rotation. For the qualitative estimation of trace elements, we used a X-ray fluorescence spectrometer. The study on the thickness of the enamel showed that the total area is approximately uniform and varying the total area, both the area of the enamel and of the dentine proportionally vary. As regards the study of trace elements, the samples showed an almost constant presence of Zinc, Strontium and Manganese due to a diet essentially omnivorous, the enamel appears thicker in the sites where the elements found were Iron, Manganese, Zinc, Copper and Phosphorus reporting to a carnivorous diet. The thickness of the enamel may be affected by the trace elements present in it, so it may be also related to the type of diet. A quantitative study of the elements them- selves could provide, in the near future, more reliable data.

Prenatal diagnosis and molecular cytogenetic characterisation of a de novo 18p deletion

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Preliminary results about the archeological and paleopathological study of roman necropolis of Monte Carru - Alghero (Sardinia)

Following the discovery of burials in Monte Carru – Alghero (Sardinia) during the preliminary investigation to the creation of a housing development detected a Imperial Roman necropolis (I-III century A.D.). A total of 350 tombs – 150 burials and 200 cremations. This necropolis is supposed belongs to the undiscovered village of Carbia mantioned by the sources. Up to now have been analyzed 11 burials. The samples are clened by water and glued with PVA glue. Subsequently has been performed the anthropological study following the mains anthropological methods ( Meindel & Lovejoy, 1985; Iscan 1985; Ubelaker 1989; Trotter & Gleser 1952) and some new method (Vance – Steyn- L’Abbe 2011; Chibba e Bidmos, 2007; Bidmos, 2006). Every burial has been sampled for metagenomic and DNA study. Up to now have been analyzed 10 adults and 1 subadult. The adults are in 60% female and just 1 is undeterminate; the age of death is between 25 and 45 years; it was no possible to determinate the height . There were no obvius pathology but this can be for the extreme deterioration of bones. There are dental wear widespread mainly on premolars and first molar ; caries is present mainly on molars and dental calculus mainly on incisors. The analyzed population of Monte Carru in Roman Age shows a good state of health, no obvious pathologies and a enamel wear. More analysies are neccesary to better understand the site.

Prenatal and postnatal diagnosis of cleft lip and palate

Orofacial clefts are one of the most common congenital malformations. The prevalence of cleft lip and palate (CLP) has been reported to be 0.48/1000 (Baumler M et al, 2011). The genetic risk of malformations is more elevated when the clefts of palate and lip are associated than with cleft lip is alone (BergE SJ et al, 2001). Prenatal ultrasound tecniques are used to display both the normal and the pathological fetal lip and palate (Platt L et al, 2006). It’s very important to verify the accuracy of ultrasound tecnique in predicting clefting of the fetal lip and hard palate and other congenital anomalies. In the current study we present a case report of a woman with prenatal diagnosis of cleft lip and palate: we compared the prenatal ultrasound predictions with postnatal clinical findings on examination of the newborn’s palate. A 33-year-old woman, with a family history of cleft lip and palate, was referred for routine ultrasonic examination during her second trimester of pregnancy. Ultrasonography (USG) showed a single live foetus of a gestational age of 20+4 weeks; biparietal diameter and head circumference were adequate for the week of gestation. In frontal view it was possible to identify a bilateral cleft of the upper lip. In median sagittal view was depicted also a cleft of hard palate. After genetic counseling, the patient decided for an elective termination of the pregnancy. A stillborn female fetus was delivered with a weight of 350 g. Infantogram and gross autopsy confirmed the lip and palate cleft, but the autopsy revealed also an hidden form of spina bifida. A detailed scan of fetal anatomy between 20 and 32 gestational weeks detect majority of cleft lip and palate, but a few of congenital abnormalities are still difficult to diagnose antenatally. It’s therefore necessary to improve the accuracy of ultrasonic examination in order to provide the correct informations for a possible termination of pregnancy. However, this last must be preceded by genetic counseling and diagnosis for recurrence risk.

Is the corpus callosum degeneration a predictor of long-term disability in Multiple Sclerosis patients?

Axonal injury and loss of white matter has been well documented in corpus callosum (CC) of patients with multiple sclerosis (MS), an inflammatory demyelinating disorder of the of Central Nervous System (CNS). The CC is the largest compact white matter fiber bundle of the brain connecting the two cerebral hemispheres. It seems that CC continue to mature structurally from infancy to adulthood (Muetzel RL, 2008). The topographical organization of its fibers allows the association of its abnormalities with those of specific cortical regions. It is one of the few white matter tracts that can be adequately evaluated by conventional Magnetic Resonance Imaging (MRI), having sharply demarcated two-dimensional limits on a mid-saggital T1W imaging (Fiqueira FF, 2007). So, as a consequence of these anatomic characteristics, it is reasonable to assume that CC morphometrics might be used as a possible marker for the analysis of its integrity. Conventional and non-conventional MRI techniques have been used to characterize pathological damages of the CC; for instance, diffusion tensor imaging (DTI) can show white matter changes undetected by conventional MRI (Bester M, 2008). We carried out a review focusing our interest on the diagnostic efficacy of MRI to predict MS disability. PubMed search engine was used to select manuscripts with predefined search terms: “corpus callosum”, “multiple sclerosis”, “disability” and “magnetic resonance imaging”. Only manuscripts in English language, published from January 2003 to January 2013, were selected. Abstracts and unpublished studies were excluded. References of all relevant retrieved articles, of review articles, were also evaluated manually in order to find additional articles. For data extraction an electronic form was prepared. The findings of the review suggest that CC atrophy is a more sensitive marker of disease activity than the global atrophy measures, predicting clinically definite multiple sclerosis (CDMS)conversion as early as 6 months of clinically isolated syndrome (CIS) (Kalincik T, 2012). Furthermore, the occurrence or growth of lesions over the first year in the splenium of corpus callosum, together with the cerebellum and the thalamus, was associated with cognitive worsening at year 5. CC atrophy seems to be a simple and an accurate predictor of disability, mostly for secondary progressive MS (Fiqueira FF, 2007), and it seems helpful for routine clinical activities (Vaneckova M, 2012).

Morphological findings in malformed fetuses with normal karyotype

In our Department morphological findings on fetuses from therapeutic interruption of pregnancy or spontaneous abortion are performed since ten years in order to correlate the ultrasound and/or chromosomic diagnosis with a real presence of malformations. The fetopathologic examination generally agrees with the chromosomal diagnosis, while in several cases it is possible to find malformations also in presence of a normal karyotype (Gitz, 2011). In our experience over the past 5 years we have found that 17 fetuses with a normal karyotype showed different heterogeneous ultrasound malformations. Only in 2 cases the fetuses died in uterus (17th and 22nd weeks of gestation), the other cases, aged between 14th and 23rd weeks of gestation, went from voluntary abortions. In 7 cases the karyotype was defined by amniocentesis while in the remaining 10 was determined by fetal fibroblasts culture; in only 30% of the observed cases the couple had carried out a genetic evaluation. External malformations were present in 16 fetuses, often related to the face (such as micrognathia, low-set of ears, flattened nasal bridge, cleft lip) or limb (short, curved, stubby) of spine (spina bifida) or genitalia (hypospadias). Malformations of internal organs were present in 10 cases, often affecting the cardiovascular system (complex heart defects and abnormal origin of the greath vessels), and nervous system (meningocele, agenesia of the corpus callosum, ventricular dilatation and Arnold-Chiari malformation); less frequent were malformations of other systems (digestive, respiratory and urinary). There was a single case of situs viscerum inversus associated with complex cardiac malformations and atresia of the bucco-pharyngeal membrane. These results indicate that the fetal morphological study is useful not only to confirm but often to supplement and complete the ultrasound data. Moreover genetic evaluation, utilizing fetopatholgical study, may have an important role in defining the diagnostic and clinical procedure, especially in relapses with malformed fetus and normal karyotype.

Educational methods in neuroanatomy: a review

Among the basic sciences providing relevant medical awareness, human anatomy, which includes gross and neuroanatomy, represents a crucial science in medical schools (Verhoeven et al., 2002). Although numerous changes have been performed in medical curricula worldwide, the anatomic background is deemed a cornerstone for approaching clinical medicine (McLachlan and Patten, 2006). In the last decades, several modifications in anatomy and, in particular, in neuroanatomy education have been done and numerous strategies have been identified to improve the skills of the students (Rizzolo et al, 2010). We carried out a non-systematic review focusing our interest on the transformation of traditional teaching methodology of neuroanatomy. Articles on neuroanatomy education were selected if the study described an approach for teaching/learning neuroanatomy and if the neuroanatomy course was aimed to all medical students but dental or healthcare students. PubMed database was used to select manuscripts with a predefined combined list of search terms: “neuroanatomy”, “anatomy”, “teaching”, “learning”, “methods and strategies”. Our search included only English language manuscripts published from December 1990 to January 2012. Abstracts and unpublished studies were excluded. References of all relevant retrieved articles, of relevant recent review articles, and abstracts published in proceedings were also evaluated manually in order to find additional articles. For data extraction an electronic form was prepared. Only eighteen of the fifty (36%) selected articles met the inclusion criteria. Two described the dissection as the primary educational method, whereas the majority used electronic tools providing three-dimensional information. Some authors highlighted that students could be more enthusiastic when they have the chance to study with cadavers deeming this approach near to clinical medicine (Zurada et al, 2011); however the comprehension of topography and spatial relationships of various structures is equally achieved with the use of electronic means. The post-mortem examination represents an opportunity to evaluate the variability of human anatomy; however, logistical, ethical, and safety issues hamper the implementation of this method in medical schools (Winkelmann, 2007). The method used for anatomy and neuroanatomy teaching is essential to augment the interest of the medical students towards medicine but several obstacles can hinder the implementation and scale-up of the best educational method.