Rationale: Spinal cord infarction (SCI) accounted for only 1% to 2% of all ischemic strokes and 5% to 8% of acute myelopathies. Magnetic resonance imaging (MRI) play a role in the exclusion of non-ischemic etiology, but the diagnostic accuracy of this procedure may be low in confirming the diagnosis, even when the vast marrow lesions are present. Indeed, changes in MRI T2 can develop from hours to days, thus accounting for the low sensitivity in the setting of hyperacute (ie, within 6 hours of onset of symptoms).
For this reason, SCI remains a clinical diagnosis. Although the diagnostic work-up wide, up to 20% to 40% of cases of SCI are classified as cryptogenic. Here, we describe a case of cryptogenic longitudinally extensive transverse myelopathy due to SCI, with negative MRI and diffusion-weighted imaging at 9 hours after the initial symptoms.
patient concerns: A 51 years old woman presented to our emergency department with severe acute abdominal pain, nausea, vomiting, sudden-onset bilateral leg weakness with diffuse sensory loss and paraesthesia in the trunk and legs.
Diagnosis: On neurological examination, she showed severe paraparesis and sensory level D6. A spinal cord 3T MRI with gadolinium performed at 9 hours after onset of symptoms does not detect changes in the spinal cord. Due to the persistence of a suggestive clinical picture of myelopathy acute, 3T MRI of the spine was repeated after 72 hours showed hyperintense “pencil-like” signals mainly involving the gray matter of T1 to T6 at T2 sequence, slightly hypointense on T1 and the diffusion limited.
Intervention: Patients were given a salicylic acid (100 mg / d), a low molecular weight heparin prophylaxis, and start neuromotor rehabilitation.
Results: Two months later, a follow-up neurological examination revealed severe spastic paraparesis, there is a clear sensory level and sphincter control was poor with bladder distension.
Lesson: Apart from a relatively low frequency in the general population, SCI should be suspected in any patient presenting with symptoms of acute and progressive myelopathic, even without the presence of vascular risk factors. Thus, the clinical presentation consistent with a potential vascular syndromes involving the spinal cord MRI override initially negative and should not delay the timely and proper management.
Cultivated tomato (Solanum lycopersicum L.) suffer severe bottlenecks during domestication of the strain: Implications of the chloroplast genome
In a variety of plants, genetic bottlenecks occur through domestication can limit plant resistance to biotic and abiotic stresses. In this study, we investigated the nucleotide diversity in tomato chloroplast genome by sequencing seven plastomes of cultivated accessions from the Campania region (southern Italy) and two wild species among the closest (Solanum pimpinellifolium) and most distantly related (S. neorickii) tomato species cultivated. comparative analysis between the chloroplast genome sequenced in this work and are available at GenBank allowed to evaluate the variability plastomes and defining phylogenetic relationships.
A dramatic reduction in genetic diversity detected in cultivated tomatoes, however, de novo mutations some, still distinguishable tomatoes cultivated from the nearest wild relative S. pimpinellifolium, which are detected and can potentially be used as a diagnostic marker. phylogenetic analysis confirms that S. pimpinellifolium is the closest ancestor of all cultivated tomatoes. Local accession all gathered together and strictly related to other cultivated tomato (S. lycopersicum group). Noteworthy, S. lycopersicum var. cerasiforme resulting in a mix of both cultivated and wild tomato genotypes for one of the two accessions analyzed teem with tomatoes cultivated, whereas others with S. pimpinellifolium.
Hyperacute extensive spinal cord infarction and negative spine magnetic resonance imaging: a case report and review of the literature
The whole exome Analysis of Congenital Muscular Dystrophy and congenital myopathy patients from India Unveils Wide Spectrum of Known and Novel Mutation
Background: Congenital muscular dystrophy (CMD) and the congenital myopathies (CM) is a clinically heterogeneous group of genetic and degenerative primary muscle disorder with onset at birth or during infancy. Due to the extensive heterogeneity, clinical examination and analysis of protein-based often fail to identify the genetic causes of this disease.
Methods: Whole exome sequencing (WES) conducted to identify genetic mutations and diagnose pathogens cohort of 36 hard-to-diagnose cases CM CMD and Indian origin, using a variant of the call and a rigorous filtration process variants. Furthermore, in silico modeling and molecular dynamics (MD) study conducted for a number of novels and missense variants.
Results: A total of 33 and 21 rare and damaging mutations identified in 28 genes were previously reported in CMD and CM based OMIM, ClinVar and Orphanet, respectively. We can accurately diagnose 54% of patients (n = 12/22) in the group of CMD and 35% of patients (n = 5/14) in the group CM. Furthermore, the study for the MD is located in LMNA mutations, lama2 and RYR1, indicating that the wild type of protein is more stable than their mutant counterparts, implying a potential mechanism of pathogenesis.
NATtrol Zika Virus (PRVABC59), External Run Control, Low (6 x 1.0 mL)
Description: To serve as a true negative control for various procedures, this monoclonal IgG should be used under the identical conditions and at the same dilution as the rabbit monoclonal antibody being used for a positive reaction.
Description: To serve as a true negative control for various procedures, this monoclonal IgG should be used under the identical conditions and at the same dilution as the rabbit monoclonal antibody being used for a positive reaction.
Description: To serve as a true negative control for various procedures, this monoclonal IgG should be used under the identical conditions and at the same dilution as the rabbit monoclonal antibody being used for a positive reaction.
Description: Positive control tissue section for each individual antibody; Based on availability; INQUIRE
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Conclusions: The findings WES has led us to identify new variants were reported as well as for the first time in India CMD and CM patients. This allows us to achieve an accurate genetic diagnosis that are otherwise difficult using conventional diagnostic tools. Transferring WES findings for clinical practice will help the clinical care of patients affected guided and informed genetic counseling.
