Upward displacement of the odontoid process into the foramen magnum: a palaeopathological case

An upward displacement of the odontoid process into the foramen magnum was observed in the skeletal remains of a young male unearthed from a 14th to 17th century cemetery in the north-eastern Italy. Examination of skull bone vestiges and computed tomography scan analysis of the axis exhibited a clear-cut contact zone between the odontoid process and the anterior border of the foramen magnum. In addition, the odontoid process appeared backward deviated. Findings suggest a possible diagnosis of basilar impression/invagination. This anomalous contact may cause compression of neural and vascular structures with a multifaceted series of clinical symptoms. We are unable to set our finding into a complete presumptive diagnostic outline because there is no chance to estimate either the magnitude of the whole craniovertebral junction defect but we believe that the present case contributes to the general knowledge of the craniovertebral region and to bone pathology in ancient times

Capitate-trapezoid synostosis: analysis of an Early Bronze Age case and review of the literature

Background: Carpal synostoses are congenital defects characterised by complete or incomplete coalition of two or more carpal bones. Although most of these defects are discovered only incidentally, sometimes they become clinically manifest. Among the different types of carpal coalition, the synostosis between capitate and trapezoid bones is quite rare, with only sparse data available in the literature. The aim of this report was to describe a case of capitate-trapezoid synostosis (CTS) observed in an ancient human skeleton, as well as to scrutinise the pertinent literature in order to assess for the characteristics of this type of defect, including its potential relevance to clinical practice. Materials and methods: We studied the skeletal remains of an Early Bronze Age male warrior affected by incomplete CTS. Macroscopic and radiological examination of the defect was carried out. We also performed a comprehensive PubMed search in the Medline and other specialty literature databases to retrieve and analyse data relevant to the subject under consideration. Results and Conclusions: The present case is the most ancient CTS ever found. In those literature-reported cases accompanied by careful anatomical description, such as the present one, incomplete coalition invariably occurs between the dorsal surfaces of the two bones, this characteristic emerging as a distinctive morphological trait. Literature analysis further suggests that the true prevalence of CTS is likely to be higher than estimates based on data gathered from radiology series, and that this defect may be associated with pain and carpal bossing more frequently than generally though

Left ventricular thrombus mimicking primary cardiac tumor in a patient with primary antiphospholipid syndrome and recurrent systemic embolism

Primary antiphospholipid syndrome (APS) is a well-defined entity characterized by spontaneous and recurrent abortion, thrombocytopenia and recurrent vascular thromboses (arterial and venous). Left ventricular thrombus mimicking primary cardiac tumor with recurrent systemic embolism has not been previously reported. In this report we describe a 39 year-old man admitted to hospital presenting with left hemiparesis and a peripheral embolism. He had no history of thrombotic events. Transthoracic echocardiography showed a large, polypoid and mobile mass (4.0 × 1.2 cm) attached to the apex of the left ventricle, highly suggestive of primary cardiac tumor. The patient subsequently underwent open heart surgery. The histological examination showed an older thrombus and a fresh thrombus. Post-operative laboratory tests showed lupus anticoagulant activity, confirming the primary APS diagnosis. The patient initiated treatment with oral anticoagulation (INR levels between 2 and 3) and was discharged 29 days after surgery. At ten month follow-up, he was symptom-free with long-term anticoagulation therapy. No evidence of intracardiac mass recurrence on two-dimensional echocardiography was seen. Intracardiac thrombus has been rarely reported as a complication of primary APS. Left ventricular mass mimicking primary cardiac tumor with recurrent systemic embolism has not been previously reported. Pre-operative investigations could not distinguish such a thrombus from a cardiac tumor and the diagnosis was made post-operatively

Testing for hybridisation of the Critically Endangered Iguana delicatissima on Anguilla to inform conservation efforts

The Caribbean Island of Anguilla in the north-eastern Lesser Antilles is home to one of the last populations of the Critically Endangered Lesser Antillean iguana Iguana delicatissima. This population is highly threatened primarily because of hybridisation with non-native Iguana iguana. This study assesses the degree of hybridisation between Anguilla’s Iguana species firstly using morphological characteristics and then genetic analysis to validate the genetic integrity of morphologically identified I. delicatissima. We also examined the genetic diversity of Anguilla’s I. delicatissima population, and that of a population on the nearby island of Îlet Fourchue, St Barthélemy. Forty-five iguanas were captured in Anguilla and 10 in St Barthélemy, and sequences from 3 nuclear and 1 mtDNA genes were obtained for each. Of the 45 iguanas captured in Anguilla, 22 were morphologically identified as I. delicatissima, 12 as I. iguana and the remainder were identified as hybrids. Morphological assignments were all confirmed by genetic analyses except for one I. iguana and one hybrid individual. These two individuals appeared likely to have originated following ancestral hybridisation events several generations ago. A significant paucity of genetic diversity was found within Anguillan and St Barthélemy I. delicatissima populations, with a single haplotype being identified for each of the three nuclear genes and the mtDNA sequence. This study highlights the urgency for immediate action to conserve Anguilla’s remnant I. delicatissima population. Protection from hybridisation will require translocation to I. iguana-free offshore cays, with supplementary individuals being sourced from neighbouring islands to enhance the genetic diversity of the population

Secondary contact and admixture between independently invading populations of the Western corn rootworm, diabrotica virgifera virgifera in Europe

The western corn rootworm, Diabrotica virgifera virgifera (Coleoptera: Chrysomelidae), is one of the most destructive pests of corn in North America and is currently invading Europe. The two major invasive outbreaks of rootworm in Europe have occurred, in North-West Italy and in Central and South-Eastern Europe. These two outbreaks originated from independent introductions from North America. Secondary contact probably occurred in North Italy between these two outbreaks, in 2008. We used 13 microsatellite markers to conduct a population genetics study, to demonstrate that this geographic contact resulted in a zone of admixture in the Italian region of Veneto. We show that i) genetic variation is greater in the contact zone than in the parental outbreaks; ii) several signs of admixture were detected in some Venetian samples, in a Bayesian analysis of the population structure and in an approximate Bayesian computation analysis of historical scenarios and, finally, iii) allelic frequency clines were observed at microsatellite loci. The contact between the invasive outbreaks in North-West Italy and Central and South-Eastern Europe resulted in a zone of admixture, with particular characteristics. The evolutionary implications of the existence of a zone of admixture in Northern Italy and their possible impact on the invasion success of the western corn rootworm are discussed

Investigating the role of X chromosome breakpoints in premature ovarian failure

ABSTRACT: The importance of the genetic factor in the aetiology of premature ovarian failure (POF) is emphasized by the high percentage of familial cases and X chromosome abnormalities account for 10% of chromosomal aberrations. In this study, we report the detailed analysis of 4 chromosomal abnormalities involving the X chromosome and associated with POF that were detected during a screening of 269 affected women. Conventional and molecular cytogenetics were valuable tools for locating the breakpoint regions and thus the following karyotypes were defined: 46,X,der(X)t(X;19)(q21.1;q13.42)mat, 46,X,t(X;2)(q21.33;q14.3)dn, 46,X,der(X)t(X;Y)(q26.2;q11.223)mat and 46,X,t(X;13)(q13.3;q31)dn. A bioinformatic analysis of the breakpoint regions identified putative candidate genes for ovarian failure near the breakpoint regions on the X chromosome or on autosomes that were involved in the translocation event. HS6ST1, HS6ST2 and MATER genes were identified and their functions and a literature review revealed an interesting connection to the POF phenotype. Moreover, the 19q13.32 locus is associated with the age of onset of the natural menopause. These results support the position effect of the breakpoint on flanking genes, and cytogenetic techniques, in combination with bioinformatic analysis, may help to improve what is known about this puzzling disorder and its diagnostic potential

Early detection of left ventricular diastolic dysfunction in Chagas' disease

BACKGROUND: Chagas' disease may cause left ventricular diastolic dysfunction and its early detection in asymptomatic patients would allow to stratify the risk and to optimize medical treatment. The aim of this study is to investigate if transmitral Doppler flow can detect early abnormalities of the diastolic left ventricular function in patients during the indeterminate phase of Chagas' disease, in which the electrocardiogram (ECG), chest x-ray and 2-D echocardiogram (2D-echo) are normal. METHODS: a group of 54 patients with Chagas' disease was studied and compared to a control group of 27 subjects of similar age. All were assessed with an ECG, chest X-ray, 2-D echo, and transmitral Doppler flow. RESULTS: both groups had similar values in the 2D-echo. In patients with Chagas' disease, the transmitral Doppler showed a higher peak A velocity (control group: 0.44 m/sec, Chagas group: 0.55 m/sec, p = 0.001), a lower E/A ratio (control group: 1.45, Chagas group: 1.22, p < 0.05), and a lengthening of the deceleration time of early diastolic filling (control: 138.7 ± 26.8 msec, Chagas group: 167.9 ± 34.6 msec, p = 001), thus revealing an early disorder of the diastolic left ventricular function in patients with Chagas' disease. CONCLUSION: in patients with Chagas' disease who are in the indeterminate phase, transmitral Doppler flow allowed to identify early abnormalities of the left ventricular diastolic function, which provide useful clinical information for prognostic stratification and treatment

Genetic hitchhiking and resistance evolution to transgenic Bt toxins: insights from the African stalk borer Busseola fusca (Noctuidae)

Since transgenic crops expressing Bacillus thuringiensis (Bt) toxins were first released, resistance evolution leading to failure in control of pests populations has been observed in a number of species. Field resistance of the moth Busseola fusca was acknowledged 8 years after Bt maize was introduced in South Africa. Since then, field resistance of this corn borer has been observed at several locations, raising questions about the nature, distribution and dynamics of the resistance trait. Using genetic markers, our study identified four outlier loci clearly associated with resistance. In addition, genetic structure at neutral loci reflected extensive gene flow among populations. A realistically parameterised model suggests that resistance could travel in space at speed of several kilometres a year. Markers at outlier loci delineated a geographic region associated with resistance spread. This was an area of approximately 100 km radius, including the location where resistance was first reported. Controlled crosses corroborated these findings and showed significant differences of progeny survival on Bt plants depending on the origin of the resistant parent. Last, our study suggests diverse resistance mutations, which would explain the widespread occurrence of resistant larvae in Bt fields across the main area of maize production in South Africa