73 research outputs found
Esophageal perforation following foreign body ingestion in children: report of three cases
We report three cases of foreign body esophagus, in two of them the foreign body was a coin, and the third child ingested a disc battery. In all three cases the foreign body was impacted in the mid esophagus. All were initially evaluated by chest X ray which confirmed the diagnosis.One underwent flexible endoscopic extraction initially followed by rigid esophagoscope later and in the other two extractions was performed using rigid esophagoscope, two of them ended with perforation of the esophagus and treated conservatively with only chest tube insertion and supportive management.In the third child who ingested a disc battery, esophagoscopy revealed necrosis and perforation at the site of impaction with formation of trachea-esophageal fistula, extraction was performed but the fistula necessitated surgical closure which failed and therefore underwent stent placement to end with complete cure.Keywords: Foreign body; esophageal perforation; children; rigid endoscope
EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10
EAST syndrome is a recently described autosomal recessive disorder secondary to mutations in KCNJ10 (Kir4.1), a gene encoding a potassium channel expressed in the brain, eye, ear and kidney. This condition is characterized by 4 cardinal features; Epilepsy, Ataxia, Sensorineural deafness, and (a renal salt-wasting) Tubulopathy, hence the acronym EAST syndrome. Here we review reported clinical manifestations, in particular the neurological signs and symptoms which typically have the most impact on the quality of life of patients. In addition we review the pathophysiology and genetic aspects of the disease. So far 14 different KCNJ10 mutations have been published which either directly affect channel function or may lead to mislocalisation. Investigations of the pathophysiology may provide clues to potential treatments
La production de viande de chameau : Ă©tat des connaissances, situation actuelle et perspectives
Camel meat is a product regularly consumed in arid countries and it is one of the rare products from this species being subject to a regional export market, even international, if the meat from Australian wild camel is included although a poorly evaluated part of this market is out of the official sector. The main exporting countries are located in the Horn of Africa and the Sahelian area whereas the importing countries are the Gulf States and North Africa. Meat productivity in the camel is rather low although the dressing percentages approach those of cattle, especially in animals coming from the more intensive production systems. However, there is a tradition of pastoral fattening having good results. Camel meat is rather close to beef as well in its total chemical composition as in its gustatory characteristics and nutritive value. However, because of fat concentration in the hump, camel muscles give relatively low-fat meat and are particularly low in cholesterol, which can make a good commercial argument.La viande de chameau est un produit régulièrement consommé dans les pays arides et c’est un des rares produits de cette espèce faisant l’objet d’un marché d’export régional, voire international si on inclut la viande de chameaux « marrons » d’Australie, bien qu’une part mal évaluée de ce marché se situe dans le secteur informel. Les principaux pays exportateurs se situent dans la Corne de l’Afrique et dans la région sahélienne alors que les pays importateurs sont surtout les pays du Golfe et d’Afrique du Nord. La productivité en viande chez le chameau est plutôt faible bien que les rendements carcasse se rapprochent de ceux des bovins, surtout chez les animaux provenant des systèmes de production plus intensifs. Il existe toutefois une tradition d’embouche cameline pastorale obtenant de bons résultats. La viande de chameau est assez proche de la viande de boeuf tant dans sa composition chimique globale que dans ses particularités gustatives et sa valeur nutritionnelle. Toutefois, du fait de la concentration du gras dans la bosse, la viande de chameau apparaît relativement maigre et particulièrement pauvre en cholestérol, ce qui peut en faire un argument commercial certain
Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.
BACKGROUND: EAST syndrome is an autosomal recessive disorder caused by loss-of-function mutations in the gene KCNJ10. Among the 14 pathogenic mutations described so far, the p.R65P mutation stands out as the most frequent one and is particularly associated with patients of Pakistani origin. As a result we aimed to establish the existence of a potential founder effect in the Pakistani population. METHODS: To this end, we genotyped 12 patients from seven families and we compared disease haplotypes with ethnically matched control chromosomes. This haplotype was used together with demographic data for Pakistan to estimate the age of this founder mutation. RESULTS: We identified a small homozygous 0.694Â Mb region around the KCNJ10 p.R65P mutation that had identical haplotypes in all of the patients which were completely absent in the control sample. Based on current demographic data and knowledge about disease frequency, we estimate that this particular p.R65P mutation arose 20 generations (about 500Â years) ago. CONCLUSION: By knowing the prevalent mutation in a given population more efficient diagnostics can be performed and the families can benefit from specific counseling
Parallel Algorithm for Brain Tissues Segmentation in T1-Weighted MR Images on 3D Reconfigurable Mesh Computer
In this paper, we propose a parallel algorithm for brain tissues segmentation from T1-weighted Magnetic Resonance Images (MRI) on Massively Parallel architecture named reconfigurable mesh computer (MCR), this brain tissues are already extracted using our method named Threshold Morphologic Brain Extraction method (TMBE)[1]. The use of this massively parallel architecture is introduced in order to improve the complexities of the corresponding algorithms. The image of size (M x N x K) to be processed must be stored on the RMC of the same size, one Voxel per Processing Element (PE). The proposed method consists in the brain tissues segmentation using parallel version of the modified fuzzy c-means MFCM [2], named PMFCM. This algorithm is directly applied on the extracted volume. The corresponding parallel program of the proposed algorithm is validated on a 3D Reconfigurable Mesh emulator [3]
Mobile ad hoc network testbed using mobile robot technology
MANET (Mobile Ad Hoc Network) researchers have shown increased interest in using mobile robot technology for their testbed platforms. Thus, the main motivation of this paper is to review various robot-based MANET testbeds that have been developed in previously reported research. Additionally, suggestions to heighten mobility mechanisms by using mobile robots to be more practical, easy and inexpensive are also included in this paper, as we unveils ToMRobot, a low-cost MANET robot created from an ordinary remote control car that is capable of performing a real system MANET testbed with the addition of only a few low-cost electronic components. Despite greatly reduced costs, the ToMRobot does not sacrifice any of the necessary MANET basic structures and will still be easily customizable and upgradeable through the use of open hardware technology like Cubieboard2 and Arduino, as its robot controller. This paper will also include guidelines to enable technically limited MANET researchers to design and develop the ToMRobot. It is hoped that this paper achieves its two pronged objectives namely (i) to facilitate other MANET researchers by providing them with a source of reference that eases their decision making for selecting the best and most suitable MANET mobile robots for real mobility in their MANET testbeds (ii) to provide MANET researchers with a prospect of building their own MANET robots that can be applied in their own MANET testbed in the future
Bimodality of intratumor Ki67 expression is an independent prognostic factor of overall survival in patients with invasive breast carcinoma
Proliferative activity, assessed by Ki67 immunohistochemistry (IHC), is an established prognostic and predictive biomarker of breast cancer (BC). However, it remains under-utilized due to lack of standardized robust measurement methodologies and significant intratumor heterogeneity of expression. A recently proposed methodology for IHC biomarker assessment in whole slide images (WSI), based on systematic subsampling of tissue information extracted by digital image analysis (DIA) into hexagonal tiling arrays, enables computation of a comprehensive set of Ki67 indicators, including intratumor variability. In this study, the tiling methodology was applied to assess Ki67 expression in WSI of 152 surgically removed Ki67-stained (on full-face sections) BC specimens and to test which, if any, Ki67 indicators can predict overall survival (OS). Visual Ki67 IHC estimates and conventional clinico-pathologic parameters were also included in the study. Analysis revealed linearly independent intrinsic factors of the Ki67 IHC variance: proliferation (level of expression), disordered texture (entropy), tumor size and Nottingham Prognostic Index, bimodality, and correlation. All visual and DIA-generated indicators of the level of Ki67 expression provided significant cutoff values as single predictors of OS. However, only bimodality indicators (Ashman’s D, in particular) were independent predictors of OS in the context of hormone receptor and HER2 status. From this, we conclude that spatial heterogeneity of proliferative tumor activity, measured by DIA of Ki67 IHC expression and analyzed by the hexagonal tiling approach, can serve as an independent prognostic indicator of OS in BC patients that outperforms the prognostic power of the level of proliferative activity
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor
Multiple TREX mRNA export complex subunits (e.g., THOC1, THOC2, THOC5, THOC6, THOC7) have now been implicated in neurodevelopmental disorders (NDDs), neurodegeneration and cancer. We previously implicated missense and splicing-defective THOC2 variants in NDDs and a broad range of other clinical features. Here we report 10 individuals from nine families with rare missense THOC2 variants including the first case of a recurrent variant (p.Arg77Cys), and an additional individual with an intragenic THOC2 microdeletion (Del-Ex37-38). Ex vivo missense variant testing and patient-derived cell line data from current and published studies show 9 of the 14 missense THOC2 variants result in
Expanding clinical presentations due to variations in THOC2 mRNA nuclear export factor
Multiple TREX mRNA export complex subunits (e.g., THOC1, THOC2, THOC5, THOC6, THOC7) have now been implicated in euro developmental disorders (NDDs), neurodegeneration and cancer. We previously implicated missense and splicing-defective THOC2 variants in NDDs and a broad range of other clinical features. Here we report 10 individuals from nine families with rare missense THOC2 variants including the first case of a recurrent variant (p.Arg77Cys), and an additional individual with an intragenic THOC2 microdeletion (Del-Ex37-38). Ex vivo missense variant testing and patient-derived cell line data from current and published studies show 9 of the 14 missense THOC2 variants result in reduced protein stability. The splicing-defective and deletion variants result in a loss of small regions of the C-terminal THOC2 RNA binding domain (RBD). Interestingly, reduced stability of THOC2 variant proteins has a flow-on effect on the stability of the multi-protein TREX complex; specifically on the other NDD-associated THOC subunits. Our current, expanded cohort refines the core phenotype of THOC2 NDDs to language disorder and/or ID, with a variable severity, and disorders of growth. A subset of affected individuals' has severe-profound ID, persistent hypotonia and respiratory abnormalities. Further investigations to elucidate the pathophysiological basis for this severe phenotype are warranted.Raman Kumar, Elizabeth Palmer, Alison E. Gardner, Renee Carroll, Siddharth Banka ... Jozef Gecz ... et al
Ready for O4 II: GRANDMA Observations of Swift GRBs during eight-weeks of Spring 2022
We present a campaign designed to train the GRANDMA network and its
infrastructure to follow up on transient alerts and detect their early
afterglows. In preparation for O4 II campaign, we focused on GRB alerts as they
are expected to be an electromagnetic counterpart of gravitational-wave events.
Our goal was to improve our response to the alerts and start prompt
observations as soon as possible to better prepare the GRANDMA network for the
fourth observational run of LIGO-Virgo-Kagra (which started at the end of May
2023), and future missions such as SM. To receive, manage and send out
observational plans to our partner telescopes we set up dedicated
infrastructure and a rota of follow-up adcates were organized to guarantee
round-the-clock assistance to our telescope teams. To ensure a great number of
observations, we focused on Swift GRBs whose localization errors were generally
smaller than the GRANDMA telescopes' field of view. This allowed us to bypass
the transient identification process and focus on the reaction time and
efficiency of the network. During 'Ready for O4 II', 11 Swift/INTEGRAL GRB
triggers were selected, nine fields had been observed, and three afterglows
were detected (GRB 220403B, GRB 220427A, GRB 220514A), with 17 GRANDMA
telescopes and 17 amateur astronomers from the citizen science project
Kilonova-Catcher. Here we highlight the GRB 220427A analysis where our
long-term follow-up of the host galaxy allowed us to obtain a photometric
redshift of , its lightcurve elution, fit the decay slope of the
afterglows, and study the properties of the host galaxy
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