A 3K Axiom SNP array from a transcriptome-wide SNP resource sheds new light on the genetic diversity and structure of the iconic subtropical conifer tree Araucaria angustifolia (Bert.) Kuntze.

High-throughput SNP genotyping has become a precondition to move to higher precision and wider genome coverage genetic analysis of natural and breeding populations of non-model species. We developed a 44,318 annotated SNP catalog for Araucaria angustifolia, a grandiose subtropical conifer tree, one of the only two native Brazilian gymnosperms, critically endangered due to its valuable wood and seeds. Following transcriptome assembly and annotation, SNPs were discovered from RNA-seq and pooled RAD-seq data. From the SNP catalog, an Axiom® SNP array with 3,038 validated SNPs was developed and used to provide a comprehensive look at the genetic diversity and structure of 15 populations across the natural range of the species. RNA-seq was a far superior source of SNPs when compared to RAD-seq in terms of conversion rate to polymorphic markers on the array, likely due to the more efficient complexity reduction of the huge conifer genome. By matching microsatellite and SNP data on the same set of A. angustifolia individuals, we show that SNPs reflect more precisely the actual genome-wide patterns of genetic diversity and structure, challenging previous microsatellite-based assessments. Moreover, SNPs corroborated the known major north-south genetic cline, but allowed a more accurate attribution to regional versus among-population differentiation, indicating the potential to select ancestry-informative markers. The availability of a public, user-friendly 3K SNP array for A. angustifolia and a catalog of 44,318 SNPs predicted to provide ~29,000 informative SNPs across ~20,000 loci across the genome, will allow tackling still unsettled questions on its evolutionary history, toward a more comprehensive picture of the origin, past dynamics and future trend of the species' genetic resources. Additionally, but not less importantly, the SNP array described, unlocks the potential to adopt genomic prediction methods to accelerate the still very timid efforts of systematic tree breeding of A. angustifolia.

Isolated proximal greater saphenous vein thrombosis and the risk of propagation to deep vein thrombosis and pulmonary embolism.

OBJECTIVES: Greater saphenous vein (GSV) thrombosis is concerning due to its close proximity to the deep femoral vein. This study sought to identify the risk of propagation to deep vein thrombosis (DVT) or pulmonary embolism (PE) among patients with isolated proximal GSV superficial thrombosis and describe provider practice patterns related to treatment. MATERIALS AND METHODS: This is an Institutional Review Board-approved retrospective multi-center study. Patients presented to one of three possible emergency departments in a large health system. About 21,716 patients were queried through the electronic medical record. Ninety-five patients or 0.4% of study subjects met inclusion criteria of isolated proximal GSV thrombosis. Forty-five patients were excluded, leaving a final data set of 40 patients. Investigators recorded radiology impressions, patient demographics, past medical history, DVT/PE risk factors, and treatment plans. Propagation of GSV thrombosis to DVT/PE was also noted. Follow-up methods included chart review, primary care physician follow-up, and direct, scripted patient follow-up phone calls. Descriptive statistics were applied to study subjects using SAS for Windows, version 9.3. RESULTS: Three patients (7.5%) had progression of GSV thrombosis to DVT/PE. Twenty percent of patients without malignancy were treated with anticoagulation compared to 14% of those with preexisting malignancy upon initial diagnosis of isolated GSV thrombosis. Forty-five percent of patients were prescribed some type of supportive therapy to aid in the treatment of GSV thrombosis. CONCLUSION: Isolated proximal GSV thrombosis, while uncommon, may frequently progress to DVT or PE. Our work suggests clinicians should consider anticoagulation for isolated GSV thrombosis.

A case report of cerebral air embolism after esophagogastroduodenoscopy: diagnosis and management in the emergency department.

BACKGROUND: Esophagogastroduodenoscopy (EGD) is a rare cause of cerebral air embolism (CAE). To our knowledge, there are only eight previously reported such cases in the history of the procedure. OBJECTIVE: To identify clinical causes of CAE that can present to the emergency department (ED) and to understand the appropriate management of CAE. CASE REPORT: A 71-year-old man presented with new-onset left-sided hemiparesis and dysarthria 2h after undergoing an outpatient EGD. The patient was diagnosed with CAE in the ED after undergoing a computed tomography scan of the brain without contrast. CONCLUSION: The diagnosis of CAE is based on a thorough history and obtaining urgent radiographic imaging of the brain. The definitive treatment of CAE involves hyperbaric oxygen.

Metabolic syndrome amongst patients with psoriasis in a tertiary dermatology centre, Malaysia

Background: Psoriasis has been shown to be associated with a higher risk of metabolic syndrome and cardiovascular disease. Objective: To investigate the prevalence of metabolic syndrome among patients with psoriasis and study the association between psoriasis and cardiovascular risk factors. Methods: This was a hospital based case-control study conducted at the Dermatology Clinic, University Malaya Medical Centre (UMMC) from May 2010 to March 2011. A total of 131 adult patients with psoriasis and 129 age-, gender- and race-matched controls were recruited. All subjects answered a standardised cardiovascular risks questionnaire and had anthropometric measurements recorded. Laboratory investigations included fasting glucose / lipid profile, erythrocyte sedimentation rate (ESR), c-reactive protein (CRP), urine microalbumin:creatinine ratio and an electrocardiogram. The diagnosis of metabolic syndrome was made using the harmonised criteria for metabolic syndrome in South East Asians. Statistical analysis was performed using statistical processing software (SPSS-17). Results: Metabolic syndrome was significantly higher among patients with psoriasis (64.9% versus 51.9%) (p = 0.034). The presence of metabolic syndrome was associated with low high density lipoprotein (HDL) (p=0.002) and high triglyceride (TG) levels (p = 0.014). The prevalence of diabetes mellitus was also significantly higher among patients with psoriasis (46.6% versus 27.1%) (p = 0.001). Hypertension, ischaemic heart disease, low density lipoprotein (LDL) levels, smoking and obesity were not significantly higher among patients with psoriasis. Conclusion: Our results demonstrate an association between psoriasis and metabolic syndrome which was primarily due to diabetes mellitus and dyslipidaemia.

VIPoma syndrome: challenges in management.

Vasoactive intestinal peptide-producing tumour (VIPoma) or Verner-Morrison syndrome is a very rare neuroendocrine tumour. It occurs in less than ten percent of all pancreatic islet cell tumours, and about 70 percent to 80 percent of these tumours originate from the pancreas. Diagnosis is characteristically delayed. The first-line treatment is surgical. It may be curative in forty percent of patients with benign and non-metastatic disease. Palliative surgery is indicated in extensive disease, followed by conventional somatostatin analogue (octreotide) therapy. Somatostatin analogues improve hormone-mediated symptoms, reduce tumour bulk and prevent local and systemic effects. We present a female patient with VIPoma syndrome, which had metastasised to the liver at diagnosis. The patient underwent palliative Whipple procedure and subsequent cytoreductive radiofrequency ablations to her liver metastases. Unfortunately, after symptomatic improvement for three years, her disease progressed. Currently, she is on daily octreotide, achieving partial control of her symptoms.

Dopamine-secreting phaeochromocytomas and paragangliomas: clinical features and management.

Most functional phaeochromocytomas/paragangliomas produce noradrenaline and/or adrenaline. Those that produce dopamine are rare. We describe the distinguishing clinical features of dopamine-secreting phaeochromocytomas and paragangliomas from those that secrete noradrenaline/adrenaline and the impact on their management. We present a case of a dopamine-secreting paraganglioma from our institution and review 14 case reports of dopamine-secreting phaeochromocytomas/paragangliomas published between 1984 and 2008. As observed in the literature, 80% of the tumours were extra-adrenal. Most patients presented with non-specific symptoms or mass effect without the classical presentation of catecholamine excess. The majority were diagnosed with urinary or plasma dopamine. Five patients had malignant tumours and 12 patients underwent surgical resection of the primary tumours. Unlike noradrenaline/adrenaline-secreting phaeochromocytomas/paragangliomas, dopamine-secreting tumours lack a classical presentation, are extra-adrenal and have a higher malignant potential. A routine inclusion of urinary or plasma dopamine as part of catecholamine screening in all suspected phaeochromocytomas and paragangliomas is recommended.

Efficacy of electrical resistivity and induced polarization methods for revealing fluoride contaminated groundwater in granite terrain.

The accumulation of fluoride (F) in groundwater is a common phenomenon in India and worldwide. Its location can be identified through a direct hydrochemical analysis, which was carried out in Kurmapalli watershed (located 60 km SE of Hyderabad city), Nalgonda district, Andhra Pradesh, India affected by F contamination. The results of the hydrochemical analysis showed that F varied from 0.71 to 19.01 mg/l and its concentration exceeded the permissible limit (i.e., 1.5 mg/l) in 78% of the total 32 samples analyzed. The highest F value (19.01 mg/l) was found near Madnapur village, which is located in the central part of the watershed. Resistivity and induced polarization (IP) surveys were also carried out to reveal the zones where elevated F-contaminated groundwater exists. The objective of this paper was to highlight the utility of resistivity and IP surveys, using hydrochemical constituents as constraint, for the successful delineation of such contaminated/polluted groundwater zones in the granite area.