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Rhg4 is a major genetic locus that contributes to soybean cyst nematode (SCN) resistance in the Peking-type resistance of soybean ( Glycine max ), which also requires the rhg1 gene. By map-based cloning and functional genomic approaches, we previously showed that the Rhg4 gene encodes a predicted cytosolic serine hydroxymethyltransferase (GmSHMT08); however, the novel gain of function of GmSHMT08 in SCN resistance remains to be characterized. Using a forward genetic screen, we identified an allelic series of GmSHMT08 mutants that shed new light on the mechanistic aspects of GmSHMT08 -mediated resistance. The new mutants provide compelling genetic evidence that Peking-type rhg1 resistance in cv Forrest is fully dependent on the GmSHMT08 gene and demonstrates that this resistance is mechanistically different from the PI 88788-type of resistance that only requires rhg1 We also demonstrated that rhg1-a from cv Forrest, although required, does not exert selection pressure on the nematode to shift from HG type 7, which further validates the bigenic nature of this resistance. Mapping of the identified mutations onto the SHMT structural model uncovered key residues for structural stability, ligand binding, enzyme activity, and protein interactions, suggesting that GmSHMT08 has additional functions aside from its main enzymatic role in SCN resistance. Lastly, we demonstrate the functionality of the GmSHMT08 SCN resistance gene in a transgenic soybean plant., (© 2017 American Society of Plant Biologists. All Rights Reserved.)

Purpose: Hypothalamic hamartomas (HHs) are a malformation of the ventral hypothalamus and tuber cinereum, associated with gelastic seizures and epilepsy. We sought to determine the spectrum of electroencephalography (EEG) abnormalities in a large cohort of HH patients., Methods: Data was collected for HH patients undergoing evaluation between 2003 and 2007. Data included seizure history, prior treatment, and results of diagnostic studies. After informed consent, data were entered into a database., Key Findings: We reviewed 133 HH patients. Mean age at time of data analysis was 15.7 years (59.4% male). Most patients had gelastic (77%) and/or complex partial seizures (58%). Records for 102 EEG studies on 73 patients were reviewed. Interictal epileptiform abnormalities were seen in 77%, localizing predominately to the temporal and frontal regions. Records for 104 video-EEG (VEEG) studies on 65 patients were reviewed. Of 584 gelastic seizures (GS) captured, no ictal EEG change was noted in 438 (75%). Of GS with localizing features, 89% suggested onset from the temporal and/or frontal regions. There were 160 complex partial seizures (CPS). For those with localizing features, 100% localized to the temporal and/or frontal head regions. EEG and VEEG findings correlated with the side of HH attachment. VEEG did not influence outcome., Significance: EEG features in HH patients are diverse. The majority of gelastic seizures fail to demonstrate change in the EEG. The lack of EEG changes with many clinical seizures, and the false localization seen in those events with an ictal change suggest the utility of EEG is limited in the evaluation of these patients., (Wiley Periodicals, Inc. © 2011 International League Against Epilepsy.)

Purpose: A small number of patients with hypothalamic hamartoma (HH) present with infantile spasms (IS) as an initial or early seizure type. We describe the clinical features of IS associated with HH., Methods: Our series of patients with HH and epilepsy was reviewed to identify cases with a history of IS. The clinical features and neuroradiological findings in this study group were compared to a control group of patients with HH and refractory epilepsy, but without a history of IS., Results: We identified six patients with HH and a history of IS in this series (n = 122, 4.9%). Five of the six are male. Four of the six patients (67%) developed IS as their first seizure type. The mean age for onset of IS was 6.2 months (range 4-9 months). Results of electroencephalographic (EEG) study at the time of IS diagnosis showed hypsarrhythmia in two (33%). Five patients were treated with adrenocorticotropic hormone (ACTH), and four of the five (80%) responded with control of IS. However, these patients developed other seizure types, and were ultimately refractory to medical management. Aside from the IS, no significant differences in clinical and imaging features were determined between the study group and the control group., Conclusions: HH should be included in the differential diagnosis for infants presenting with IS. These patients may have hypsarrhythmia on initial EEG, and may respond to ACTH treatment with improvement of IS. However, all became refractory with other seizure types, more commonly seen in HH patients. Focal pathologies associated with IS may be subcortical, as well as cortical, in nature. We have not identified any predictive features for the occurrence of IS in the HH population.

Background and Purpose: Commercially available software programs for the conversion of dynamic CT perfusion (CTP) source data into cerebral blood volume (CBV), cerebral blood flow (CBF), and mean transit time (MTT) maps require operators to subjectively define parameters that are used in subsequent postprocessing calculations. Our purpose was to define the variability of CBV, CBF, and MTT values derived from CTP maps generated from the same source data postprocessed by three different CT technologists (CTTs)., Methods: Raw data derived from dynamic CTP examinations performed in 20 subjects were postprocessed seven times by three experienced CTTs. Parenchymal regions of interest derived from each map (CBV, CBF, and MTT) were compared. The CBF maps generated by each technologist were also qualitatively assessed. Decisions made by each analyzer during postprocessing were assessed., Results: The intraclass correlation coefficients were 0.73 (95% CI, 0.64-0.81), 0.87 (0.83-0.91) and 0.89 (0.85-0.93), for the CBV, CBF, and MTT parenchymal regions of interest, respectively. All individual correlation coefficients between data sets were significant to a P value <.05. Measurement error, made solely on the basis of different technologists postprocessing the same source data and expressed as the coefficients of variation, were 31%, 30%, and 14% for CBV, CBF, and MTT, respectively. The selection of the arterial input function (AIF) region of interest, venous function region of interest, and preenhancement interval were very reproducible. The technologists differed significantly with respect to the selection of the postenhancement image (PoEI) (P <.01). A retrospective review of the individual CBF maps indicated that variance in the PoEI selection accounted for much of the variation in the qualitative appearance of the CBF maps generated by different technologists. The PoEI was selected to demarcate the baseline of the AIF time-attenuation curve. It is likely that this method of PoEI selection significantly contributed to intra- and interanalyzer variability., Conclusion: There is a high degree of correlation between parenchymal regions of interest derived from CBV, CBF, and MTT maps generated from the same dynamic CTP source data postprocessed by different operators. The level of agreement, however, may not be sufficient to incorporate quantitative values into clinical decision making. Quantitative differences between parenchymal regions of interest were not infrequently manifest as significant differences in the qualitative appearance of the CBF maps. It is likely that, with optimization of postprocessing parameter selection, the degree of variability may be substantially reduced.

Two patients with congenital dermoids of the eustachian tube presented with recurrent otitis media and chronic otorrhea resistant to antimicrobial therapy. CT demonstrated fat density, homogeneous lesions, filling and expanding the eustachian tube. On MR, signal from the lesions was consistent with fat, and the relationship with the internal carotid artery was better delineated than by CT. Microscopically, the masses consisted of a conglomeration of ectodermal and mesodermal elements.