Nonspecific colitis a forgotten entity in Central Sudan

Background: Nonspecific colitis is an inflammatory Bowel Disease (IBD) that runs a clinically benign course. Histopathologically it is characterized by superficial mucosal erosions with lymphocytic infiltration in the lamina propria with no granuloma. Aim of this study: is to describe the clinical presentation of Non-Specific Colitis (NSC), and to evaluate its response to 5-aminosalicylic acid (5-ASA) in Sudanese patients.Setting and Design: This study is a prospective cohort. A total of 26 patients presenting with bloody, mucoid diarrhoea, lower abdominal pain or colonic mass were included in the study.Methods and Materials: A total of 26 patients presenting with bloody mucoid diarrhoea, lower abdominal pain with or without colonic mass were included in the study. All patients underwent colonoscopy. Statistical analysis: A descriptive statistical analysis was done using SPSS.Results: 19 (%) of patients were males and 7 were females with male to female ratio of 3:1. The majority of patients 16 (61.6%) had bloody diarrhea while 18 (69.2%) opened their bowel 4-6 times a day. The majority 10 (38.8%) had rectum and sigmoid involvement. All patients showed a good response to 5-ASA.Conclusions: This study showed that NSC has clinical features that are very much similar to mild UC with a rather good clinical response to oral 5-ASA.Keywords: Nonspecific colitis, indeterminate colitis, 5-aminosaclyic acid

A new species of Dermopristis Kearn, Whittington & Evans-Gowing, 2010 (Monogenea: Microbothriidae), with observations on associations between the gut diverticula and reproductive system and on the presence of denticles in the nasal fossae of the host Glaucostegus typus (Bennett) (Elasmobranchii: Rhinobatidae)

Dermopristis cairae n. sp. (Microbothriidae) is described from the skin and possibly from the nasal fossae of the giant shovelnosed ray Glaucostegus typus (Bennett). The new species is distinguished from D. paradoxus Kearn, Whittington & Evans-Gowing, 2010 by its larger size, body shape, lack of transverse ridges on the ventral surface and absence of a seminal receptacle. Extensive short gut branches lie dorsal to the testes and adjacent to the coiled region of the vas deferens and the oo¨type, possibly reflecting high metabolic demand in these areas. Denticles are present in the lining of the nasal fossae of G. typus, providing a firm substrate for the cement-based attachment of a microbothriid. However, confirmation that D. cairae inhabits the nasal fossae of G. typus is required

GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome

OBJECTIVE: To describe better the motor phenotype, molecular genetic features, and clinical course of GNAO1-related disease. METHODS: We reviewed clinical information, video recordings, and neuroimaging of a newly identified cohort of 7 patients with de novo missense and splice site GNAO1 mutations, detected by next-generation sequencing techniques. RESULTS: Patients first presented in early childhood (median age of presentation 10 months, range 0-48 months), with a wide range of clinical symptoms ranging from severe motor and cognitive impairment with marked choreoathetosis, self-injurious behavior, and epileptic encephalopathy to a milder phenotype, featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia and mild epilepsy. Hyperkinetic movements were often exacerbated by specific triggers, such as voluntary movement, intercurrent illnesses, emotion, and high ambient temperature, leading to hospital admissions. Most patients were resistant to drug intervention, although tetrabenazine was effective in partially controlling dyskinesia for 2/7 patients. Emergency deep brain stimulation (DBS) was life saving in 1 patient, resulting in immediate clinical benefit with complete cessation of violent hyperkinetic movements. Five patients had well-controlled epilepsy and 1 had drug-resistant seizures. Structural brain abnormalities, including mild cerebral atrophy and corpus callosum dysgenesis, were evident in 5 patients. One patient had a diffuse astrocytoma (WHO grade II), surgically removed at age 16. CONCLUSIONS: Our findings support the causative role of GNAO1 mutations in an expanded spectrum of early-onset epilepsy and movement disorders, frequently exacerbated by specific triggers and at times associated with self-injurious behavior. Tetrabenazine and DBS were the most useful treatments for dyskinesia

Dissecting the molecular organization of the translocon-associated protein complex

In eukaryotic cells, one-third of all proteins must be transported across or inserted into the endoplasmic reticulum (ER) membrane by the ER protein translocon. The translocon-associated protein (TRAP) complex is an integral component of the translocon, assisting the Sec61 protein-conducting channel by regulating signal sequence and transmembrane helix insertion in a substrate-dependent manner. Here we use cryo-electron tomography (CET) to study the structure of the native translocon in evolutionarily divergent organisms and disease-linked TRAP mutant fibroblasts from human patients. The structural differences detected by subtomogram analysis form a basis for dissecting the molecular organization of the TRAP complex. We assign positions to the four TRAP subunits within the complex, providing insights into their individual functions. The revealed molecular architecture of a central translocon component advances our understanding of membrane protein biogenesis and sheds light on the role of TRAP in human congenital disorders of glycosylation

Demonstrating that Medical Devices Satisfy User Related Safety Requirements

One way of contributing to a demonstration that a medical device is acceptably safe is to show that the device satisfies a set of requirements known to mitigate hazards. This paper describes experience using formal techniques to model an IV infusion device and to prove that the modelled device captures a set of requirements. The requirements chosen for the study are based on a draft proposal developed by the US Food and Drug Administration (FDA). A major contributor to device related errors are (user) interaction errors. For this reason the chosen models and requirements focus on user interface related issues.FEDER - Federación Española de Enfermedades Raras(000062)This work has been funded by the EPSRC research grant EP/G059063/1: CHI+MED (Computer–Human Interaction for Medical Devices). J. C. Campos was funded by project NORTE-07-0124-FEDER-00006

A Conceptual Design Framework based on TRIZ Scientific Effects and Patent Mining

Conceptual design represents a critical initial design stage that involves both technical and creative thinking to develop and derive concept solutions to meet design requirements. TRIZ Scientific Effects (TRIZSE) is one of the TRIZ tools that utilize a database on functional, transformation, parameterization of scientific effects to provide conceptual solutions to engineering and design problems. Although TRIZSE has been introduced to help engineers solve design problems in the conceptual design phase, the current TRIZSE database presents general scientific concept solutions with a few examples of solutions from patents which are very abstract and not updated since its introduction. This research work explores the derivation of a novel framework that integrates TRIZ scientific effects to the current patent information (USPTO) using data mining techniques to develop a better design support tool to assist engineers in deriving innovative design concept solutions. This novel framework will provide better, updated, relevant and specific examples of conceptual design ideas from patents to engineers. The research used Python as the base programming platform to develop a conceptual design software prototype based on this new framework where both the TRIZSE Database and Patents Database (USPTO) are searched and processed in order to build a Doc2Vec similarity model. A case study on the corrosion of copper pipelines by seawater is presented to validate this novel framework and results of the novel TRIZSE Database and patents examples are presented and further discussed in this paper. The results of the case study indicated that the Doc2Vec model is able to perform its intended similarity queries. The patent examples from results of the case study warrant further consideration in conceptual design activities

Longitudinal study of middle east respiratory syndrome coronavirus infection in dromedary camel herds in Saudi Arabia, 2014–2015

Two herds of dromedary camels were longitudinally sampled with nasal and rectal swabs and serum, between September 2014 and May 2015, and the samples were tested for Middle East Respiratory Syndrome (MERS) coronavirus RNA and antibodies. Evidence of MERS-CoV infection was confirmed in one herd on the basis of detection of virus RNA in nasal swabs from three camels and significant increases in the antibody titers from three others. The three viruses were genetically identical, thus indicating introduction of a single virus into this herd. There was evidence of reinfection of camels that were previously seropositive, thus suggesting that prior infection does not provide complete immunity from reinfection, a finding that is relevant to camel vaccination strategies as a means to prevent zoonotic transmission.published_or_final_versio

Differential effects of antigens from L. braziliensis isolates from disseminated and cutaneous leishmaniasis on in vitro cytokine production

BACKGROUND: Disseminated leishmaniasis is an emerging infectious disease, mostly due to L. braziliensis, which has clinical and histopathological features distinct from cutaneous leishmaniasis. METHODS: In the current study we evaluated the in vitro production of the cytokines IFN-γ, TNF-α, IL-5 and IL-10 by peripheral blood mononuclear cells (PBMC) from 15 disseminated leishmaniasis and 24 cutaneous leishmaniasis patients upon stimulation with L. braziliensis antigens genotyped as disseminated leishmaniasis or cutaneous leishmaniasis isolates. RESULTS: Regardless of the source of L. braziliensis antigens, PBMC from cutaneous leishmaniasis patients produced significantly higher IFN-γ than PBMC from disseminated leishmaniasis patients. Levels of TNF-α by PBMC from cutaneous leishmaniasis patients were significantly higher than disseminated leishmaniasis patients only when stimulated by genotyped cutaneous leishmaniasis antigens. The levels of IL-5 and IL-10 production by PBMC were very low and similar in PBMCs from both disseminated leishmaniasis and cutaneous leishmaniasis patients. The immune response of each patient evaluated by the two L. braziliensis antigens was assessed in a paired analysis in which we showed that L. braziliensis genotyped as disseminated leishmaniasis isolate was more potent than L. braziliensis genotyped as cutaneous leishmaniasis isolate in triggering IFN-γ and TNF-α production in both diseases and IL-5 only in cutaneous leishmaniasis patients. CONCLUSION: This study provides evidence that antigens prepared from genotypically distinct strains of L. braziliensis induce different degrees of immune response. It also indicates that both parasite and host play a role in the outcome of L. braziliensis infection