A Pentanucleotide Repeat Polymorphism (TTTTA) in the Apolipoprotein (a) Gene – Its Distribution and Its Association with the Risk of Cardiovascular Disease

Apolipoprotein (a) is a component of lipoprotein (a). Several studies have shown the association between risk of coronary heart diseases and the size of apo(a) isoforms, although this issue is still controversial. Recent researches focused the attention on the pentanucleotide (TTTTA), highlighting a statistical correlation between low Lp(a) levels and high repeat numbers. In the present paper we studied the distribution of the apo(a) pentanucleotide polymorphism among populations from Corsica, and we then compared it with other populations from Europe, Africa and Asia. The results stressed out the usefulness of these markers in population genetics analysis. We later investigated the possible association of the apo(a) pentanucleotide polymorphism with serum lipid levels in two samples from Corsica (France): one comprises patients or individuals with high risk of future coronary heart disease and the other is a control sample. No significant differences between the two groups have been found, but the analysis of variance showed a significant association between different genotypes and cholesterol and LDL serum levels

Risk factors for postoperative cervical haematoma in patients undergoing thyroidectomy: a retrospective, multicenter, international analysis (REDHOT study)

Background Postoperative cervical haematoma represents an infrequent but potentially life-threatening complication of thyroidectomy. Since this complication is uncommon, the assessment of risk factors associated with its development is challenging. The main aim of this study was to identify the risk factors for its occurrence.Methods Patients undergoing thyroidectomy in seven high-volume thyroid surgery centers in Europe, between January 2020 and December 2022, were retrospectively analysed. Based on the onset of cervical haematoma, two groups were identified: Cervical Haematoma (CH) Group and No Cervical Haematoma (NoCH) Group. Univariate analysis was performed to compare these two groups. Moreover, employing multivariate analysis, all potential independent risk factors for the development of this complication were assessed.Results Eight thousand eight hundred and thirty-nine patients were enrolled: 8,561 were included in NoCH Group and 278 in CH Group. Surgical revision of haemostasis was performed in 70 (25.18%) patients. The overall incidence of postoperative cervical haematoma was 3.15% (0.79% for cervical haematomas requiring surgical revision of haemostasis, and 2.35% for those managed conservatively). The timing of onset of cervical haematomas requiring surgical revision of haemostasis was within six hours after the end of the operation in 52 (74.28%) patients. Readmission was necessary in 3 (1.08%) cases. At multivariate analysis, male sex (P < 0.001), older age (P < 0.001), higher BMI (P = 0.021), unilateral lateral neck dissection (P < 0.001), drain placement (P = 0.007), and shorter operative times (P < 0.001) were found to be independent risk factors for cervical haematoma.Conclusions Based on our findings, we believe that patients with the identified risk factors should be closely monitored in the postoperative period, particularly during the first six hours after the operation, and excluded from outpatient surgery

Marcatori molecolari per lo studio della biodiversità umana

I. L’evoluzione lascia tracce nel nostro DNA II. Variazioni a singolo nucleotide III. Variazioni nel numero di copie IV. Variazioni strutturali V. Applicazioni: datazioni molecolari (la questione dei tassi di mutazione) VI. Altre applicazion

Caratteristiche antropometriche e composizione corporea di atleti praticanti il bodybuilding e la kickboxing

In this paper athletes practising bodybuilding and kickboxing were compared, as in these two disciplines weight and body composition have a great importance. The research was carried out on a sample from Sardinia (Italy) constituted by 22 subjects practising bodybuilding and 24 practising kickboxing. The following anthropometric measurements were taken: height, weight, circumferences and skinfold thickness, from which different anthropometric indices were calculated: Body Mass Index (BMI), Waist Hip Ratio (WHR), Arm Muscle Area (AMA), Arm Fat Area (AFA). The percentage of fat mass (FAT%%) was evaluated through skinfold techniques, using Jackson and Pollock (3 skinfolds) and Durnin and Womersley (4 skinfolds) equations. The average value of total height of athletes under scrutiny (172.94±6.45 cm for kickboxers and 172.06±8.98 cm for bodybuilders) was slightly higher than the average value of Sardinians (173.3 cm). Mean BMI for both groups fell within the range of normal weighted, but with a value significantly higher for (24.14±1.71 vs 22.76±1.71, p < 0.05). The two groups of athletes showed a different distribution of muscle mass, located prevalently in the upper limbs for the bodybuilders, in fact they presented higher values of arm circumference and AMA and lower values of biceps and triceps skinfold thickness. Kickboxers presented a lower distribution of subcutaneous fat in the trunk. Moreover, low percentage of fat mass characterize both kickboxers (3 skinfolds=7.70±2.32%; 4 skinfolds=11.53±2.99%) and bodybuilders (3 skinfolds=8.35±3.35%; 4 skinfolds=13.14±3.15%), and it is probably due to the intensive physical activity practised: 7.80±0.79 hours a week for kickboxers and 6.50±1.77 hours a week for bodybuilders.In questo lavoro si sono voluti mettere a confronto sportivi praticanti bodybuilding e la kickboxing, attività per le quali il peso e la composizione corporea assumono una valenza significativa. La ricerca è stata condotta su un campione, di origine sarda, di 22 atleti di bodybuilding e 24 atleti di kickboxing. Sono state rilevate le seguenti misure antropometrici: peso, statura, circonferenze e pliche, con i quali sono stati calcolati: l¿indice di massa corporea (BMI, Body Mass Index), il rapporto vita/fianchi (WHR, Waist Hip Ratio), l¿area muscolare e adiposa del braccio (AMA, Arm Muscle Area e AFA, Arm Fat Area). Il grasso percentuale (FAT%) è stata stimato tramite plicometria, utilizzando le formule Jackson e Pollock (3 pliche) e Durnin e Womersley (4 pliche). Il valore medio della statura totale degli atleti esaminati (172,94±6,45 cm nei kickboxer e 172,06±8,98 cm nei bodybuilder) è di poco superiore alla media regionale sarda di 171,3 cm. Il BMI medio rientra, per entrambi i gruppi, nel range di normopeso, ma con un valore significativamente superiore nei bodybuilder (24,14±1,71 vs 22,76±1,71, p < 0,05). Tra i due gruppi di atleti si è evidenziata una differente distribuzione della muscolarità, localizzata per i praticanti bodybuilding maggiormente nell¿arto superiore, essi registrano infatti valori più alti della circonferenza del braccio e dell¿indice di muscolarità AMA e più bassi valori delle pliche bicipitale e tricipitale, i kickboxer presentano una minor distribuzione di grasso sottocutaneo a livello del tronco. Si è riscontrato inoltre una ridotta massa grassa sia nei kickboxer (3 pliche=7,70±2,32%; 4 pliche=11,53±2,99%) che nei bodybuilder (3 pliche=8,35±3,35%; 4 pliche= 13,14±3,15%), dovuta sicuramente alla rilevante attività fisica praticata: 7,80±0,79 ore a settimana per i kickboxer e 6,50±1,77 ore a settimana per i bodybuilder

From old markers to next generation: reconstructing the history of the peopling of Sardinia

Context For many years the Sardinian population has been the object of numerous studies because of its unique genetic structure. Despite the extreme abundance of papers, various aspects of the peopling and genetic structure of Sardinia still remain uncertain and sometimes controversial. Objective We reviewed what has emerged from different studies, focussing on some still open questions, such as the origin of Sardinians, their relationship with the Corsican population, and the intra-regional genetic heterogeneity. Methods The various issues have been addressed through the analysis of classical markers, molecular markers and, finally, genomic data through next generation sequencing. Results and conclusions Although the most ancient human remains date back to the end of the Palaeolithic, Mesolithic populations brought founding lineages that left evident traces in the modern population. Then, with the Neolithic, the island underwent an important demographic expansion. Subsequently, isolation and genetic drift contributed to maintain a significant genetic heterogeneity, but preserving the overall homogeneity on a regional scale. At the same time, isolation and genetic drift contributed to differentiate Sardinia from Corsica, which saw an important gene flow from the mainland. However, the isolation did not prevent gene flow from the neighbouring populations whose contribution are still recognisable in the genome of Sardinians

Analysis of uniparental markers reveals a complex pattern of migration within Sardinia

Background: From the genetic viewpoint, Sardinia is well differentiated from other surrounding populations. In spite of a common ancestral origin, substantial genetic heterogeneity is observed within the island. Matrimonial pattern, as well as past migration movements, may account for the complex genetic structure of Sardinia. Aim: To compare data from uniparental markers in order to highlight the migration pattern of male and female lineages and check their congruence with the demographic data. Subjects and methods: Genomic DNA was obtained from 279 unrelated males selected from three isolated villages and from three open populations representative of North, Central and South Sardinia. The hypervariable region 1 of mtDNA was sequenced and 17 Y-chromosome loci were genotyped. Parameters of within and among populations diversity were calculated and analysis of migration was performed. Results: When analysed as a whole population, demographic data show a balanced movement of males and females in Sardinia, unlike other Italian and European populations. Remarkably, when the island is divided into geographic areas, different migration patterns are clearly recognisable. Whereas North and Central Sardinia populations show a stronger male migration rate, the South Sardinia population shows a stronger female migration rate. Conclusion: Distinct migration patterns of male and female lineages affect the areas investigated differently. These past migration movements are major contributors to the complex genetic structure currently observed in the Sardinian population

Analisi molecolare delle popolazioni del Mediterraneo attraverso 11 inserzioni Alu

In this work 11 Alu polymorphisms have been employed to study the genetic structure of the populations from the Mediterranean. Alu insertion have amplified within the primate genome over the last 65 million years and represent approximately 5% of the human genome. These polymorphisms have been widely used as genetic markers in human evolution due to their rapidity and easiness to type, their selectively neutrality and the knowledge of their ancestral state. The Alu used in this study are: Sb19.3, Sb19.12, Sb19.10, ACE, Ya5NBC221, Yb8NBC125, Yb8NBC120, HS4.32, HS4.69, CD4 and ApoA1. The examined populations come from Sardinia, Sicily, Corsica, France, Turkey, Balearic Island, and Morocco. All the populations, after the Bonferroni correction, were in Hardy-Weinberg equilibrium for the all loci, with the exception of Turkey for the locus Sb19.3. The results showed a strong genetic heterogeneity within the Mediterranean Basin, and a high differentiation of Berber, Turkish and central Sardinian populations. Alu polymorphism were also able to detect a certain degree of genetic heterogeneity within Sicily, confirming results of previous works. An hypothetical ancestral population, characterized by absence of Alu insertion for all loci, have been used to verify the origin of Alu polymorphism. Its localization near the African population, allowed us to confirm the African origin of Alu insertion. In conclusion, the Alu employed in the study turned out to be extremely useful for populations analysis, for macro- and micro-geographical differentiation.In questo lavoro è stata studiata la struttura genetica delle popolazioni del Mediterraneo attraverso 11 inserzioni Alu. Le inserzioni Alu si sono diffuse all¿interno del genoma dei primati negli ultimi 65 milioni di anni e rappresentano approssimativamente il 5% del genoma umano. Questi polimorfismi sono ampiamente usati come marcatori genetici negli studi sull¿evoluzione umana per la loro rapidità e facilità di tipizzazione, la loro neutralità selettiva e la conoscenza dello stato ancestrale. Le Alu utilizzate in questa ricerca sono: Sb19.3, Sb19.12, Sb19.10, ACE, Ya5NBC221, Yb8NBC125, Yb8NBC120, HS4.32, HS4.69, CD4 e ApoA1. I campioni esaminati provengono dalle popolazioni della Sardegna, Sicilia, Corsica, Francia, Turchia, Isole Baleari e Marocco. Tutte le popolazioni, dopo la correzione di Bonferroni, sono risultate in equilibrio di Hardy-Weinberg per tutti i marcatori, con la sola eccezione dei Turchi per il locus Sb19.3. I risultati hanno rivelato una forte eterogeneità genetica all¿interno del bacino del Mediterraneo e una profonda differenziazione della popolazione berbera, turca e della Sardegna centrale. I polimorfismi Alu sono stati in grado di evidenziare un certo grado di eterogeneità all¿interno della Sicilia, confermando quanto era emerso in precedenti lavori. Per verificare l¿origine delle inserzioni Alu, è stata inserita nei confronti una popolazione ancestrale ipotetica. La sua localizzazione vicino alla popolazione africana ha permesso di confermare l¿origine africana delle inserzioni Alu. In conclusione, le Alu utilizzate in questo lavoro si sono rivelate estremamente utili per un¿analisi popolazionistica livello macro- e micro-geografico