Patients commonly present with neck masses to the Emergency Department. The acute presentation of such a mass can be alarming to patients and their families. In this report we discuss a rare etiology ...of an acutely presenting neck mass in an adult.
We present a 19-year-old patient with an acute neck mass. The mass developed abruptly soon after initiation of a new upper body strength-training regimen. The patient's history was unremarkable for any trauma or constitutional symptoms. Physical examination revealed the mass, which was diagnosed as a lymphatic malformation by imaging. Surgical removal was successful with pathology confirming the diagnosis.
Lymphatic malformations, although rare, may present in adulthood. The acute presentation of a new mass, coupled with a lack of concerning constitutional symptoms, should increase the diagnostic suspicion of a lymphatic malformation.
Beleaguered Immunity McDowell, John M.
Science (American Association for the Advancement of Science),
12/2011, Letnik:
334, Številka:
6061
Journal Article
Recenzirano
A regulator of plant immunity functions dynamically in different cell compartments and is targeted by pathogen virulence factors.
Plants defend themselves against pathogens with an immune system that ...detects foreign molecules and endogenous danger signals (
1
). Pathogens interfere with this response by secreting effector proteins that target nodes in the underlying cell signaling network (
2
). In turn, plants guard these nodes with surveillance proteins that detect effectors' sabotage attempts and trigger antimicrobial responses, including programmed cell death at the infection site. Because this “effector-triggered immunity” underpins breeding for disease resistance in crops, there is much interest in understanding how surveillance proteins are activated and how this alarm signal triggers immune responses. One well-studied immune regulatory protein is called ENHANCED DISEASE SUSCEPTIBILITY 1 (EDS1) because mutations in the
EDS1
gene compromise immunity (
3
), but its molecular function has not been clear. Two papers in this issue, by Bhattacharjee
et al.
(
4
) on page 1405 and Heidrich
et al.
(
5
) on page 1401, identify proteins that interact with EDS1 and describe the spatial mobility of these protein complexes. These studies also show that EDS1 is attacked by pathogen effector proteins, prompting a reappraisal of its role in regulating the immune response.
Pathogen resistance (R) genes of the NBS-LRR class (for nucleotide binding site and leucine-rich repeat) are found in many plant species and confer resistance to a diverse spectrum of pathogens. ...Little is known about the mechanisms that drive NBS-LRR gene evolution in the host-pathogen arms race. We cloned the RPP8 gene (for resistance to Peronospora parasitica) and compared the structure of alleles at this locus in resistant Landsberg erecta (Ler-0) and susceptible Columbia (Col-0) accessions. RPP8-Ler encodes an NBS-LRR protein with a putative N-terminal leucine zipper and is more closely related to previously cloned R genes that confer resistance to bacterial pathogens than it is to other known RPP genes. The RPP8 haplotype in Ler-0 contains the functional RPP8-Ler gene and a nonfunctional homolog, RPH8A. In contrast, the rpp8 locus in Col-0 contains a single chimeric gene, which was likely derived from unequal crossing over between RPP8-Ler and RPH8A ancestors within a Ler-like haplotype. Sequence divergence among RPP8 family members has been accelerated by positive selection on the putative ligand binding region in the LRRs. These observations indicate that NBS-LRR molecular evolution is driven by the same mechanisms that promote rapid sequence diversification among other genes involved in non-self-recognition
Two modes of pathogen recognition by plants Dangl, J.L; McDowell, J.M
Proceedings of the National Academy of Sciences - PNAS,
06/2006, Letnik:
103, Številka:
23
Journal Article
Background
Cerebral aneurysms are common, but there is no blood test for their diagnosis. Cerebral aneurysms are diagnosed incidentally or upon rupture. Current diagnostic tools either are invasive ...or place a large financial burden on the patient. Introduction of a blood test can reduce costs and allow for additional screening.
Methods
Markov decision analytic models were created for different case studies to simulate management within the US health care system. The model was run over 50 cycle‐years. Probabilities, costs, and outcomes were obtained from the literature and the National Inpatient Sample database. Quality‐adjusted life years were used to assess outcomes. Subgroup analysis was performed for different risk factors, patient groups, aneurysm size, and family members.
Results
A blood‐based diagnostic pathway is more cost effective in patients undergoing watchful waiting and as a screening tool in patients who may be at a higher risk. There was a 3‐fold reduction in death compared with the standard of care (15.71% versus 53.10%). The cost of using a blood test per additional quality‐adjusted life year gained was $34 515.13 among the watchful‐waiting cohort. The threshold price was $3951. Among patients with 1 family member with an aneurysm, we observed a 10‐fold reduction in death compared with the standard of care (0.21% versus 2.35%), with a threshold at $845.77. Among patients who smoke, we observed a 10‐fold reduction in death compared with the standard of care (0.27% versus 3.30%) with a threshold at $1054.24. Among patients with 2 family members with an aneurysm, there was a 10‐fold reduction in death compared with the standard of care (0.48% versus 5.85%) with a threshold at $1876.46.
Conclusion
Introduction of a blood‐based test for cerebral aneurysms would have a lifesaving effect within the US health care system while remaining cost effective.
Fungal and oomycete pathogens secrete complex arrays of proteins and small RNAs to interface with plant-host targets and manipulate plant regulatory networks to the microbes’ advantage. Research on ...these important virulence factors has been accelerated by improved genome sequences, refined bioinformatic prediction tools, and exploitation of efficient platforms for understanding effector gene expression and function. Recent studies have validated the expectation that oomycetes and fungi target many of the same sectors in immune signaling networks, but the specific host plant targets and modes of action are diverse. Effector research has also contributed to deeper understanding of the mechanisms of effector-triggered immunity.
•Improved genome assemblies and computational tools have facilitated effector discovery.•Common targets include ROS homeostasis, ethylene signaling, autophagy, plasmodesmata.•Many effectors engage the plant 26S proteosome to either degrade or stabilize their targets.•Novelties include the first oomycete sRNA effectors and effectors that impact the microbiome.
Schimmelpenning syndrome is a rare, well-defined constellation of clinical phenotypes associated with the presence of nevus sebaceous and multisystem abnormalities most commonly manifested as ...cerebral, ocular, and skeletal defects <xref ref-type="bibr" rid="ref1">1 . A single nucleotide mutation in the HRAS or KRAS genes resulting in genetic mosaicism is responsible for the clinical manifestations of this syndrome in the majority of cases. We report a case of an adolescent boy with Schimmelpenning syndrome with a multifocal pilocytic astrocytoma. No HRAS or KRAS gene mutations were noted in the tumor on genetic sequencing. However, glial tumors have been associated with genetic mutations of RAS upregulation, which may imply a common pathway.
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